A44T (p.Ala44Thr) variant of BBS1 (BBSome complex member BBS1)
A44T (p.Ala44Thr) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- TOPMed rs1315550100
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.64
- CADD 29.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available