P14L (p.Pro14Leu) variant of MYH7 (Myosin-7)
P14L (p.Pro14Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- ExAC rs766301164
- gnomAD rs766301164
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.48
- MetaSVM -0.12
- CADD 24.90
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available