S27N (p.Ser27Asn) variant of BEST1 (Bestrophin-1)
S27N (p.Ser27Asn) 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 0.97 / 1. The record also includes structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- rs1301396112
- ClinGen CA380831567
- ClinVar RCV001971243
- gnomAD rs1301396112
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- 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