K24Q (p.Lys24Gln) variant of BBS4 (BBSome complex member BBS4)
K24Q (p.Lys24Gln) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K24Q (p.Lys24Gln) variant details
- p.Lys24Gln
- gnomAD rs1488320107
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- MetaLR 0.10
- MetaSVM -1.02
- CADD 16.20
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available