K53K (p.Lys53Lys) variant of BBS1 (BBSome complex member BBS1)
K53K (p.Lys53Lys) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- rs1262106058
- gnomAD 11-66511239-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available