D69N (p.Asp69Asn) variant of SOS1 (Son of sevenless homolog 1)
D69N (p.Asp69Asn) 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 not provided; Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- ExAC rs771172095
- gnomAD rs771172095
- Uncertain significance
- not provided; Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.66
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; 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