A50V (p.Ala50Val) variant of PDCD1 (Programmed cell death protein 1)
A50V (p.Ala50Val) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- Ensembl rs2124861291
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -0.98
- CADD 16.10
- PolyPhen-2 0.15
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available