A33G (p.Ala33Gly) variant of BBS2 (BBSome complex member BBS2)
A33G (p.Ala33Gly) 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 0.41 / 1. The record also includes population frequency data and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- TOPMed rs797045155
- gnomAD rs797045155
- Pathogenic
- in RP74
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.25
- CADD 24.40
- EBI: Pathogenic (in RP74)
- UniProt: Pathogenic (in RP74)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available