Q19K (p.Gln19Lys) variant of BBS4 (BBSome complex member BBS4)
Q19K (p.Gln19Lys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- gnomAD 15-72695207-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.96
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available