A50D (p.Ala50Asp) variant of PDCD1 (Programmed cell death protein 1)
A50D (p.Ala50Asp) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- Ensembl rs2124861291
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.52
- MetaLR 0.44
- MetaSVM -0.40
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available