A13S (p.Ala13Ser) variant of CD8A (P01732)
A13S (p.Ala13Ser) in CD8A (P01732) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- ExAC rs754177445
- TOPMed rs754177445
- gnomAD rs754177445
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- MetaLR 0.31
- MetaSVM -0.85
- CADD 17.80
- PolyPhen-2 0.03
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available