E41Q (p.Glu41Gln) variant of CD80 (P33681)
E41Q (p.Glu41Gln) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
E41Q (p.Glu41Gln) variant details
- p.Glu41Gln
- gnomAD 3-119544847-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.03
- CADD 1.38
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available