S12R (p.Ser12Arg) variant of SOS1 (Son of sevenless homolog 1)
S12R (p.Ser12Arg) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- gnomAD rs1454378065
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- CADD 25.20
- PolyPhen-2 0.80
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available