A50T (p.Ala50Thr) variant of PDCD1 (Programmed cell death protein 1)
A50T (p.Ala50Thr) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- TOPMed rs1203794937
- gnomAD rs1203794937
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.36
- MetaLR 0.39
- MetaSVM -0.60
- CADD 22.90
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available