D104A (p.Asp104Ala) variant of BBS2 (BBSome complex member BBS2)
D104A (p.Asp104Ala) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D104A (p.Asp104Ala) variant details
- p.Asp104Ala
- rs121908179
- ClinGen CA116932
- ClinVar RCV000004839
- ClinVar RCV000190985
- Pathogenic
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- CADD 27.80
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided)
- EBI: Pathogenic (in BBS2 and RP74)
- UniProt: Pathogenic (in BBS2 and RP74)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID 11567139)
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)