A42V (p.Ala42Val) variant of BBS1 (BBSome complex member BBS1)
A42V (p.Ala42Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD 11-66511205-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available