A4V (p.Ala4Val) variant of BBS1 (BBSome complex member BBS1)
A4V (p.Ala4Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- TOPMed rs1855918672
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.26
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available