K56I (p.Lys56Ile) variant of BBS4 (BBSome complex member BBS4)
K56I (p.Lys56Ile) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K56I (p.Lys56Ile) variant details
- p.Lys56Ile
- TOPMed rs1422003622
- gnomAD rs1422003622
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.31
- MetaLR 0.31
- MetaSVM -0.60
- CADD 25.60
- PolyPhen-2 0.62
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available