I92F (p.Ile92Phe) variant of CD80 (P33681)
I92F (p.Ile92Phe) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I92F (p.Ile92Phe) variant details
- p.Ile92Phe
- gnomAD 3-119544694-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0792
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.02
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available