Y29C (p.Tyr29Cys) variant of BEST1 (Bestrophin-1)
Y29C (p.Tyr29Cys) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Vitelliform macular dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- rs1565382549
- ClinGen CA380831624
- ClinVar RCV000761419
- ClinVar RCV001228226
- Likely pathogenic
- not provided; Vitelliform macular dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.75
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (not provided; Vitelliform macular dystrophy 2)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available
- Cited in: Bestrophinopathies. (PMID 20301346)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)