K13Q (p.Lys13Gln) variant of CD80 (P33681)
K13Q (p.Lys13Gln) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
K13Q (p.Lys13Gln) variant details
- p.Lys13Gln
- gnomAD rs1444553508
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.04
- CADD 5.52
- PolyPhen-2 0.09
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available