A14D (p.Ala14Asp) variant of BBS1 (BBSome complex member BBS1)
A14D (p.Ala14Asp) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- ExAC rs774110999
- TOPMed rs774110999
- gnomAD rs774110999
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM -0.05
- CADD 10.60
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available