R30G (p.Arg30Gly) variant of HLA-C (P10321)
R30G (p.Arg30Gly) 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.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- ExAC rs281860323
- gnomAD rs281860323
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-05)
- Structural context available