P21H (p.Pro21His) variant of BBS4 (BBSome complex member BBS4)
P21H (p.Pro21His) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- gnomAD 15-72695214-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -1.01
- CADD 19.10
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available