C12G (p.Cys12Gly) variant of BBS1 (BBSome complex member BBS1)
C12G (p.Cys12Gly) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C12G (p.Cys12Gly) variant details
- p.Cys12Gly
- gnomAD 11-66510693-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.39
- CADD 9.28
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available