P30A (p.Pro30Ala) variant of MYH7 (Myosin-7)
P30A (p.Pro30Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- rs1016438334
- ClinGen CA389053963
- ClinVar RCV001963886
- ClinVar RCV004011005
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.06
- MetaLR 0.47
- MetaSVM -0.14
- PolyPhen-2 0.00
- SIFT 0.30
- EVE 0.11
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)