A3V (p.Ala3Val) variant of SOS1 (Son of sevenless homolog 1)
A3V (p.Ala3Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs745455374
- ClinGen CA1624906
- ClinVar RCV003654741
- ExAC rs745455374
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.29
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.13
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available