A13V (p.Ala13Val) variant of PDCD1 (Programmed cell death protein 1)
A13V (p.Ala13Val) in PDCD1 (Programmed cell death protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs777215737
- ClinGen CA2223465
- ClinVar RCV004099908
- ExAC rs777215737
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -1.01
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available