K25K (p.Lys25Lys) variant of BBS4 (BBSome complex member BBS4)
K25K (p.Lys25Lys) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K25K (p.Lys25Lys) variant details
- p.Lys25Lys
- rs761050940
- gnomAD 15-72695227-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available