R30S (p.Arg30Ser) variant of HLA-C (P10321)
R30S (p.Arg30Ser) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- ExAC rs41548017
- gnomAD rs41548017
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.16
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.4e-06)
- Structural context available