G62V (p.Gly62Val) variant of BBS1 (BBSome complex member BBS1)
G62V (p.Gly62Val) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G62V (p.Gly62Val) variant details
- p.Gly62Val
- rs755090554
- gnomAD 11-66514429-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available