G26S (p.Gly26Ser) variant of BEST1 (Bestrophin-1)
G26S (p.Gly26Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- rs2134409637
- ClinGen CA380831522
- ClinVar RCV001980556
- Ensembl rs2134409637
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available