I92L (p.Ile92Leu) variant of CD80 (P33681)
I92L (p.Ile92Leu) 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.
I92L (p.Ile92Leu) variant details
- p.Ile92Leu
- gnomAD 3-119544694-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -0.99
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available