L12Q (p.Leu12Gln) variant of HLA-A (P04439)
L12Q (p.Leu12Gln) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD 6-29942588-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available