V40F (p.Val40Phe) variant of BBS2 (BBSome complex member BBS2)
V40F (p.Val40Phe) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 74; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V40F (p.Val40Phe) variant details
- p.Val40Phe
- rs886043059
- ClinGen CA10605056
- ClinVar RCV000305383
- ClinVar RCV000725618
- Conflicting interpretations
- Retinitis pigmentosa 74; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 74; Retinal dystrophy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)