R315W (p.Arg315Trp) variant of BBS2 (BBSome complex member BBS2)
R315W (p.Arg315Trp) 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 Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R315W (p.Arg315Trp) variant details
- p.Arg315Trp
- rs121908178
- ClinGen CA116928
- cosmic curated COSV55325
- ClinVar RCV000004835
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystro)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID 11567139)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)