D54N (p.Asp54Asn) variant of HLA-C (P10321)
D54N (p.Asp54Asn) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- ExAC rs72558126
- gnomAD rs72558126
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.10
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available