E70V (p.Glu70Val) variant of CD3E (P07766)
E70V (p.Glu70Val) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E70V (p.Glu70Val) variant details
- p.Glu70Val
- gnomAD 11-118312723-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0868
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.06
- CADD 1.98
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available