S18F (p.Ser18Phe) variant of BBS4 (BBSome complex member BBS4)
S18F (p.Ser18Phe) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- Ensembl rs2150997273
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.24
- MetaLR 0.22
- MetaSVM -0.67
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available