A50D (p.Ala50Asp) variant of BBS4 (BBSome complex member BBS4)
A50D (p.Ala50Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- gnomAD rs1352701769
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -1.05
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available