K367N (p.Lys367Asn) variant of MYH7 (Myosin-7)
K367N (p.Lys367Asn) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
K367N (p.Lys367Asn) variant details
- p.Lys367Asn
- rs606231318
- ClinGen CA010183
- ClinVar RCV000148980
- Ensembl rs606231318
- Likely pathogenic
- Familial cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.05
- PolyPhen-2 0.16
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Familial cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available