G26A (p.Gly26Ala) variant of BEST1 (Bestrophin-1)
G26A (p.Gly26Ala) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in VMD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- cosmic curated COSV57120
- ExAC rs748684128
- gnomAD rs748684128
- Likely pathogenic
- in VMD2
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.005)
- Structural context available