A53V (p.Ala53Val) variant of BBS4 (BBSome complex member BBS4)
A53V (p.Ala53Val) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- ExAC rs750645085
- TOPMed rs750645085
- gnomAD rs750645085
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -0.95
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available