A146P (p.Ala146Pro) variant of KRAS (GTPase KRas)
A146P (p.Ala146Pro) 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 RASopathy; Encephalocraniocutaneous lipomatosis; Autoimmune lymphoproliferative. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A146P (p.Ala146Pro) variant details
- p.Ala146Pro
- rs121913527
- ClinGen CA16602441
- cosmic curated COSV55541
- ClinVar RCV000984134
- Pathogenic/Likely pathogenic
- RASopathy; Encephalocraniocutaneous lipomatosis; Autoimmune lymphoproliferative
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.01
- CADD 27.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; Encephalocraniocutaneous lipomatosis; Autoimmune lymp)
- EBI: Pathogenic (in OES)
- UniProt: Pathogenic (in OES)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block3: score -0.0314