L19Q (p.Leu19Gln) variant of HLA-C (P10321)
L19Q (p.Leu19Gln) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- Ensembl rs281860316
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available