R295P (p.Arg295Pro) variant of BBS4 (BBSome complex member BBS4)
R295P (p.Arg295Pro) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R295P (p.Arg295Pro) variant details
- p.Arg295Pro
- rs121434632
- ClinGen CA254669
- ClinVar RCV000009716
- ClinVar RCV001002881
- Pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.76
- MetaLR 0.48
- MetaSVM 0.15
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Bardet-Biedl syndrome)
- EBI: Pathogenic (in BBS4)
- UniProt: Pathogenic (in BBS4)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. (PMID 11381270)
- Cited in: Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. (PMID 7711739)