A3T (p.Ala3Thr) variant of BBS1 (BBSome complex member BBS1)
A3T (p.Ala3Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- 1000Genomes rs562874449
- ExAC rs562874449
- gnomAD rs562874449
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.25
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available