A4P (p.Ala4Pro) variant of BBS1 (BBSome complex member BBS1)
A4P (p.Ala4Pro) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- ExAC rs745375133
- TOPMed rs745375133
- gnomAD rs745375133
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.25
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available