K71Q (p.Lys71Gln) variant of CD80 (P33681)
K71Q (p.Lys71Gln) 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, published literature, and structural context.
K71Q (p.Lys71Gln) variant details
- p.Lys71Gln
- gnomAD 3-119544757-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0944
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.02
- CADD 2.30
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available