G15A (p.Gly15Ala) variant of BEST1 (Bestrophin-1)
G15A (p.Gly15Ala) in BEST1 (Bestrophin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 50; Autosomal recessive bestrophinopathy; Autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- ExAC rs766379510
- gnomAD rs766379510
- Uncertain significance
- Retinitis pigmentosa 50; Autosomal recessive bestrophinopathy; Autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.81
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.10
- CADD 22.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 50; Autosomal recessive bestrophinopathy; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available