R315Q (p.Arg315Gln) variant of BBS2 (BBSome complex member BBS2)
R315Q (p.Arg315Gln) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R315Q (p.Arg315Gln) variant details
- p.Arg315Gln
- rs544773389
- ClinGen CA281481247
- ClinVar RCV000670759
- ClinVar RCV002532103
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Retinal dystro)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID 11567139)
- Cited in: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (PMID 12677556)