E31Q (p.Glu31Gln) variant of CD274 (Programmed cell death 1 ligand 1)
E31Q (p.Glu31Gln) in CD274 (Programmed cell death 1 ligand 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- ESP rs373692552
- ExAC rs373692552
- TOPMed rs373692552
- gnomAD rs373692552
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.13
- AlphaMissense 0.12
- MetaLR 0.21
- MetaSVM -0.86
- CADD 23.40
- PolyPhen-2 0.75
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available