S5C (p.Ser5Cys) variant of BBS1 (BBSome complex member BBS1)
S5C (p.Ser5Cys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 11-66510673-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.38
- CADD 17.30
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available