G18R (p.Gly18Arg) variant of CD3E (P07766)
G18R (p.Gly18Arg) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- gnomAD 11-118307290-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.34
- CADD 24.10
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available