V54G (p.Val54Gly) variant of CD80 (P33681)
V54G (p.Val54Gly) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V54G (p.Val54Gly) variant details
- p.Val54Gly
- gnomAD 3-119544807-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -1.02
- CADD 22.60
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available