I232S (p.Ile232Ser) variant of BEST1 (Bestrophin-1)
I232S (p.Ile232Ser) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive bestrophinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I232S (p.Ile232Ser) variant details
- p.Ile232Ser
- rs1565392261
- ClinGen CA380838834
- ClinVar RCV000735775
- Ensembl rs1565392261
- Likely pathogenic
- Autosomal recessive bestrophinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Autosomal recessive bestrophinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)