A18E (p.Ala18Glu) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
A18E (p.Ala18Glu) in PDCD1LG2 (Programmed cell death 1 ligand 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- ExAC rs779657826
- TOPMed rs779657826
- gnomAD rs779657826
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.03
- AlphaMissense 0.23
- MetaLR 0.02
- MetaSVM -0.99
- CADD 12.60
- PolyPhen-2 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available