L32P (p.Leu32Pro) variant of BEST1 (Bestrophin-1)
L32P (p.Leu32Pro) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- rs1591266591
- ClinGen CA380831709
- ClinVar RCV000787797
- ClinVar RCV001338345
- Pathogenic/Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available