R20W (p.Arg20Trp) variant of PDCD1 (Programmed cell death protein 1)
R20W (p.Arg20Trp) in PDCD1 (Programmed cell death protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs866653159
- TOPMed rs866653159
- gnomAD rs866653159
- NCI-TCGA Cosmic COSV5769
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.03
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available