K25R (p.Lys25Arg) variant of BBS4 (BBSome complex member BBS4)
K25R (p.Lys25Arg) 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.
K25R (p.Lys25Arg) variant details
- p.Lys25Arg
- gnomAD 15-72695226-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- MetaLR 0.11
- MetaSVM -1.03
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available