K22R (p.Lys22Arg) variant of BBS1 (BBSome complex member BBS1)
K22R (p.Lys22Arg) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- gnomAD 11-66511030-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.76
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available