A6V (p.Ala6Val) variant of PDCD1 (Programmed cell death protein 1)
A6V (p.Ala6Val) in PDCD1 (Programmed cell death protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- ExAC rs769034572
- TOPMed rs769034572
- gnomAD rs769034572
- Missense
- Variant Prioritization Score for Impact Estimate 0.0705
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.07
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available