P14H (p.Pro14His) variant of MYH7 (Myosin-7)
P14H (p.Pro14His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- rs766301164
- ClinGen CA389054125
- ClinVar RCV001525779
- ClinVar RCV005416541
- Uncertain significance
- not provided; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)