A18V (p.Ala18Val) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
A18V (p.Ala18Val) in PDCD1LG2 (Programmed cell death 1 ligand 2) 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.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs779657826
- ClinGen CA4973825
- ClinVar RCV004502964
- ExAC rs779657826
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.05
- AlphaMissense 0.20
- MetaLR 0.01
- MetaSVM -0.97
- CADD 22.80
- PolyPhen-2 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available