S18P (p.Ser18Pro) variant of BBS4 (BBSome complex member BBS4)
S18P (p.Ser18Pro) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 15-72695204-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -1.07
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available