Q21K (p.Gln21Lys) variant of C5 (Complement C5)
Q21K (p.Gln21Lys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- gnomAD rs1389350292
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.04
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available