A33V (p.Ala33Val) variant of BBS2 (BBSome complex member BBS2)
A33V (p.Ala33Val) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- TOPMed rs797045155
- gnomAD rs797045155
- Pathogenic
- in RP74
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.23
- CADD 32.00
- PolyPhen-2 0.48
- SIFT 0.03
- EBI: Pathogenic (in RP74)
- UniProt: Pathogenic (in RP74)
- Population evidence available
- Structural context available