P25H (p.Pro25His) variant of MYL3 (Myosin light chain 3)
P25H (p.Pro25His) in MYL3 (Myosin light chain 3) 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 0.44 / 1. The record also includes population frequency data and structural context.
P25H (p.Pro25His) variant details
- p.Pro25His
- rs2544971914
- ClinGen CA352499674
- ClinVar RCV004016249
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.95
- SIFT 0.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available