I55N (p.Ile55Asn) variant of BBS4 (BBSome complex member BBS4)
I55N (p.Ile55Asn) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I55N (p.Ile55Asn) variant details
- p.Ile55Asn
- TOPMed rs1423288906
- gnomAD rs1423288906
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.50
- MetaLR 0.35
- MetaSVM -0.41
- CADD 27.20
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available