G54R (p.Gly54Arg) variant of CD3E (P07766)
G54R (p.Gly54Arg) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD 11-118312674-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.05
- MetaLR 0.16
- MetaSVM -0.98
- CADD 7.60
- PolyPhen-2 0.42
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available