K58N (p.Lys58Asn) variant of MYH6 (Myosin-6)
K58N (p.Lys58Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K58N (p.Lys58Asn) variant details
- p.Lys58Asn
- rs1891810996
- TOPMed rs1891810996
- ClinGen CA389031909
- ClinVar RCV003629240
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.33
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)