N1918K (p.Asn1918Lys) variant of MYH7 (Myosin-7)
N1918K (p.Asn1918Lys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N1918K (p.Asn1918Lys) variant details
- p.Asn1918Lys
- rs138110910
- ClinVar RCV000056317
- UniProt VAR 073888
- ClinGen CA389034544
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.93
- MetaLR 0.72
- MetaSVM 0.64
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CMD1S)
- UniProt: Pathogenic (in CMD1S)
- Population evidence available
- Structural context available
- Cited in: Mutations in the sarcomere gene MYH7 in Ebstein anomaly. (PMID 21127202)
- Cited in: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. (PMID 11106718)