D53G (p.Asp53Gly) variant of HLA-C (P10321)
D53G (p.Asp53Gly) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- Ensembl rs281860348
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available