A2T (p.Ala2Thr) variant of BBS1 (BBSome complex member BBS1)
A2T (p.Ala2Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ESP rs148912186
- TOPMed rs148912186
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.49
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available