L17Q (p.Leu17Gln) variant of HLA-A (P04439)
L17Q (p.Leu17Gln) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- Ensembl rs2127582173
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available