M31I (p.Met31Ile) variant of BBS1 (BBSome complex member BBS1)
M31I (p.Met31Ile) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M31I (p.Met31Ile) variant details
- p.Met31Ile
- rs1319049359
- ClinGen CA381453725
- ClinVar RCV002637691
- TOPMed rs1319049359
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.28
- MetaLR 0.48
- MetaSVM -0.34
- PolyPhen-2 0.00
- SIFT 0.07
- EVE 0.20
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)