D69H (p.Asp69His) variant of SOS1 (Son of sevenless homolog 1)
D69H (p.Asp69His) 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; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D69H (p.Asp69His) variant details
- p.Asp69His
- rs771172095
- ClinGen CA1624848
- ClinVar RCV002421956
- ClinVar RCV003098587
- Uncertain significance
- RASopathy; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available