I138S (p.Ile138Ser) variant of BBS2 (BBSome complex member BBS2)
I138S (p.Ile138Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
I138S (p.Ile138Ser) variant details
- p.Ile138Ser
- rs1386789664
- ClinGen CA395984421
- ClinVar RCV000761935
- ClinVar RCV001199435
- Conflicting interpretations
- Retinitis pigmentosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.13
- MetaLR 0.55
- MetaSVM -0.12
- SIFT 0.06
- MutPred 0.60
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)