A19V (p.Ala19Val) variant of BBS1 (BBSome complex member BBS1)
A19V (p.Ala19Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD rs1426785779
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available