K39R (p.Lys39Arg) variant of BBS2 (BBSome complex member BBS2)
K39R (p.Lys39Arg) 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; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs779677560
- ClinGen CA8066137
- ClinVar RCV001374287
- ClinVar RCV002488187
- Conflicting interpretations
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.63
- CADD 34.00
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)