Q23H (p.Gln23His) variant of BBS4 (BBSome complex member BBS4)
Q23H (p.Gln23His) in BBS4 (BBSome complex member BBS4) 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.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD 15-72695221-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.06
- CADD 4.76
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available