S9F (p.Ser9Phe) variant of BBS1 (BBSome complex member BBS1)
S9F (p.Ser9Phe) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD 11-66510685-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 7.39
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available