N47K (p.Asn47Lys) variant of MYL2 (P10916)
N47K (p.Asn47Lys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N47K (p.Asn47Lys) variant details
- p.Asn47Lys
- rs199474808
- ClinGen CA009871
- ClinVar RCV000024457
- ClinVar RCV000148715
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.16
- CADD 11.90
- PolyPhen-2 0.39
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)