H27Q (p.His27Gln) variant of HLA-C (P10321)
H27Q (p.His27Gln) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- ExAC rs41543915
- gnomAD rs41543915
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.20
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.6e-06)
- Structural context available