A32V (p.Ala32Val) variant of BBS1 (BBSome complex member BBS1)
A32V (p.Ala32Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 11-66511060-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available