S15F (p.Ser15Phe) variant of BBS4 (BBSome complex member BBS4)
S15F (p.Ser15Phe) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- gnomAD 15-72695196-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.36
- MetaLR 0.27
- MetaSVM -0.55
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available