Q19R (p.Gln19Arg) variant of BBS4 (BBSome complex member BBS4)
Q19R (p.Gln19Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- gnomAD 15-72695208-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -1.02
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available