D47H (p.Asp47His) variant of BBS4 (BBSome complex member BBS4)
D47H (p.Asp47His) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- gnomAD rs1435823640
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.40
- CADD 27.60
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available