V8I (p.Val8Ile) variant of CD2 (T-cell surface antigen CD2)
V8I (p.Val8Ile) in CD2 (T-cell surface antigen CD2) 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.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- gnomAD 1-116754514-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -0.94
- CADD 2.12
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available