A146V (p.Ala146Val) variant of KRAS (GTPase KRas)
A146V (p.Ala146Val) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial pancreatic carcinoma; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A146V (p.Ala146Val) variant details
- p.Ala146Val
- rs1057519725
- ClinGen CA16602440
- cosmic curated COSV55498
- ClinVar RCV000791299
- Pathogenic/Likely pathogenic
- not provided; Familial pancreatic carcinoma; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.89
- MetaLR 0.85
- MetaSVM 0.88
- CADD 31.00
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial pancreatic carcinoma; RASopathy)
- EBI: Pathogenic (in OES)
- UniProt: Pathogenic (in OES)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block3: score -0.0314
- Cited in: Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous… (PMID 26970110)
- Cited in: Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous… (PMID 30891959)