G38S (p.Gly38Ser) variant of BBS2 (BBSome complex member BBS2)
G38S (p.Gly38Ser) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- rs768699088
- ClinGen CA8066139
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55326
- Uncertain significance
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.36
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)