Y70C (p.Tyr70Cys) variant of SLC12A1 (Q13621)
Y70C (p.Tyr70Cys) in SLC12A1 (Q13621) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y70C (p.Tyr70Cys) variant details
- p.Tyr70Cys
- rs1185924805
- gnomAD rs1185924805
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.53
- MetaLR 0.59
- MetaSVM 0.15
- CADD 23.20
- PolyPhen-2 0.59
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available