P6L (p.Pro6Leu) variant of HLA-C (P10321)
P6L (p.Pro6Leu) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- cosmic curated COSV10593
- gnomAD rs891772751
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available