H30Q (p.His30Gln) variant of CD80 (P33681)
H30Q (p.His30Gln) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- TOPMed rs1297691108
- gnomAD rs1297691108
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.04
- CADD 4.10
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available