G54A (p.Gly54Ala) variant of CD3E (P07766)
G54A (p.Gly54Ala) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- Ensembl rs200651235
- Missense
- Variant Prioritization Score for Impact Estimate 0.0797
- REVEL 0.04
- MetaLR 0.11
- MetaSVM -1.07
- CADD 0.05
- PolyPhen-2 0.10
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available