G60V (p.Gly60Val) variant of BBS1 (BBSome complex member BBS1)
G60V (p.Gly60Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- gnomAD 11-66514425-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available