N33K (p.Asn33Lys) variant of BBS1 (BBSome complex member BBS1)
N33K (p.Asn33Lys) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N33K (p.Asn33Lys) variant details
- p.Asn33Lys
- gnomAD 11-66511061-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available