P13H (p.Pro13His) variant of BBS4 (BBSome complex member BBS4)
P13H (p.Pro13His) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P13H (p.Pro13His) variant details
- p.Pro13His
- gnomAD 15-72695190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.32
- MetaLR 0.29
- MetaSVM -0.65
- CADD 17.80
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available