H52D (p.His52Asp) variant of CD80 (P33681)
H52D (p.His52Asp) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H52D (p.His52Asp) variant details
- p.His52Asp
- gnomAD 3-119544814-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- MetaLR 0.21
- MetaSVM -0.87
- CADD 24.20
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available