A42S (p.Ala42Ser) variant of BBS1 (BBSome complex member BBS1)
A42S (p.Ala42Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- gnomAD 11-66511089-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.23
- CADD 26.40
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available