R20Q (p.Arg20Gln) variant of PDCD1 (Programmed cell death protein 1)
R20Q (p.Arg20Gln) in PDCD1 (Programmed cell death protein 1) is a missense change. 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.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- ESP rs368550965
- ExAC rs368550965
- TOPMed rs368550965
- gnomAD rs368550965
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.03
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available