R17H (p.Arg17His) variant of MYH6 (Myosin-6)
R17H (p.Arg17His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs746646172
- ClinGen CA7116275
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62449
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.87
- CADD 27.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)