A33D (p.Ala33Asp) variant of BBS2 (BBSome complex member BBS2)
A33D (p.Ala33Asp) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bardet-Biedl syndrome; Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- rs797045155
- ClinGen CA204968
- ClinVar RCV000190987
- ClinVar RCV000675055
- Conflicting interpretations
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Bardet-Biedl syndrome; Bardet-Biedl syndrome 2)
- EBI: Pathogenic (in RP74)
- UniProt: Pathogenic (in RP74)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. (PMID 25541840)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)