D74E (p.Asp74Glu) variant of MYH6 (Myosin-6)
D74E (p.Asp74Glu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D74E (p.Asp74Glu) variant details
- p.Asp74Glu
- rs2502209330
- ClinGen CA389031794
- ClinVar RCV003630863
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.19
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)