A32S (p.Ala32Ser) variant of BBS1 (BBSome complex member BBS1)
A32S (p.Ala32Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD 11-66511059-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.79
- CADD 25.90
- PolyPhen-2 0.80
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available