S14A (p.Ser14Ala) variant of HLA-A (P04439)
S14A (p.Ser14Ala) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- gnomAD 6-29942593-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.08
- CADD 12.50
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available