N11S (p.Asn11Ser) variant of BEST1 (Bestrophin-1)
N11S (p.Asn11Ser) 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 0.86 / 1. The record also includes population frequency data and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs281865208
- ClinGen CA6040660
- ClinVar RCV001983998
- ESP rs281865208
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Population evidence available
- Structural context available