A50V (p.Ala50Val) variant of BBS4 (BBSome complex member BBS4)
A50V (p.Ala50Val) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- gnomAD rs1352701769
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -1.00
- CADD 20.70
- PolyPhen-2 0.10
- SIFT 0.55
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available