V45I (p.Val45Ile) variant of PTPN11 (Q06124)
V45I (p.Val45Ile) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- rs2037995352
- ClinGen CA386776370
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61009
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- MetaLR 0.75
- MetaSVM 0.65
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.07
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available