D8V (p.Asp8Val) variant of BBS1 (BBSome complex member BBS1)
D8V (p.Asp8Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- gnomAD 11-66510682-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.52
- CADD 27.40
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available