E57A (p.Glu57Ala) variant of CD80 (P33681)
E57A (p.Glu57Ala) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E57A (p.Glu57Ala) variant details
- p.Glu57Ala
- gnomAD 3-119544798-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.03
- CADD 19.30
- PolyPhen-2 0.60
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available