A12V (p.Ala12Val) variant of BEST1 (Bestrophin-1)
A12V (p.Ala12Val) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1940692591
- ClinGen CA380831184
- ClinVar RCV002303914
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.79
- AlphaMissense 0.49
- MetaLR 0.96
- MetaSVM 1.07
- CADD 20.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available