A26S (p.Ala26Ser) variant of SOS1 (Son of sevenless homolog 1)
A26S (p.Ala26Ser) 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 Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs1303622703
- ClinGen CA346374563
- ClinVar RCV003540053
- ClinVar RCV004369199
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.17
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available