R2K (p.Arg2Lys) variant of CD274 (Programmed cell death 1 ligand 1)
R2K (p.Arg2Lys) in CD274 (Programmed cell death 1 ligand 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- gnomAD 9-5456118-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.02
- AlphaMissense 0.16
- MetaLR 0.07
- MetaSVM -1.01
- CADD 13.30
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available