Q23K (p.Gln23Lys) variant of BBS4 (BBSome complex member BBS4)
Q23K (p.Gln23Lys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- gnomAD 15-72695219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.02
- CADD 0.96
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available