G62C (p.Gly62Cys) variant of BBS1 (BBSome complex member BBS1)
G62C (p.Gly62Cys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G62C (p.Gly62Cys) variant details
- p.Gly62Cys
- gnomAD 11-66514430-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available