A32T (p.Ala32Thr) variant of BBS1 (BBSome complex member BBS1)
A32T (p.Ala32Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD rs1285370450
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.90
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available