N11K (p.Asn11Lys) variant of BEST1 (Bestrophin-1)
N11K (p.Asn11Lys) 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 0.71 / 1. The record also includes structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- rs281865531
- ClinGen CA380831152
- ClinVar RCV000497774
- ClinVar RCV004816733
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.51
- MetaLR 0.93
- MetaSVM 0.84
- PolyPhen-2 0.96
- SIFT 0.06
- EVE 0.22
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in VMD2)
- UniProt: Likely pathogenic (in VMD2)
- Structural context available