D89N (p.Asp89Asn) variant of MYH6 (Myosin-6)
D89N (p.Asp89Asn) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D89N (p.Asp89Asn) variant details
- p.Asp89Asn
- rs1289213430
- ClinGen CA389031698
- ClinVar RCV001234752
- gnomAD rs1289213430
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.73
- CADD 24.40
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)