L17V (p.Leu17Val) variant of HLA-A (P04439)
L17V (p.Leu17Val) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- ExAC rs751524208
- gnomAD rs751524208
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available