K20N (p.Lys20Asn) variant of BBS4 (BBSome complex member BBS4)
K20N (p.Lys20Asn) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- gnomAD 15-72695207-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 22.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available