M72V (p.Met72Val) variant of CD80 (P33681)
M72V (p.Met72Val) in CD80 (P33681) 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.
M72V (p.Met72Val) variant details
- p.Met72Val
- gnomAD 3-119544754-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0934
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -1.03
- CADD 0.55
- PolyPhen-2 0.06
- SIFT 0.71
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available