V2E (p.Val2Glu) variant of TLR7 (Toll-like receptor 7)
V2E (p.Val2Glu) in TLR7 (Toll-like receptor 7) 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.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- gnomAD X-12885513-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.03
- CADD 12.80
- PolyPhen-2 0.20
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available