P134R (p.Pro134Arg) variant of BBS2 (BBSome complex member BBS2)
P134R (p.Pro134Arg) 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 BBS2-related ciliopathy; Retinal dystrophy; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P134R (p.Pro134Arg) variant details
- p.Pro134Arg
- rs376306240
- ClinGen CA204970
- ClinVar RCV000190988
- ClinVar RCV000675071
- Pathogenic/Likely pathogenic
- BBS2-related ciliopathy; Retinal dystrophy; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- CADD 24.40
- PolyPhen-2 0.55
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (BBS2-related ciliopathy; Retinal dystrophy; Bardet-Biedl syndrom)
- EBI: Pathogenic (in RP74)
- UniProt: Pathogenic (in RP74)
- Most common in the East Asian population (allele frequency 2.5e-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)