D10V (p.Asp10Val) variant of BBS1 (BBSome complex member BBS1)
D10V (p.Asp10Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D10V (p.Asp10Val) variant details
- p.Asp10Val
- gnomAD 11-66510688-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.35
- CADD 20.30
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available