A3V (p.Ala3Val) variant of BBS1 (BBSome complex member BBS1)
A3V (p.Ala3Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- Ensembl rs1444373737
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.40
- CADD 19.80
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available