D69E (p.Asp69Glu) variant of SOS1 (Son of sevenless homolog 1)
D69E (p.Asp69Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D69E (p.Asp69Glu) variant details
- p.Asp69Glu
- rs2465395089
- ClinGen CA346374103
- ClinVar RCV002422299
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available