P48L (p.Pro48Leu) variant of MYL3 (Myosin light chain 3)
P48L (p.Pro48Leu) 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 0.43 / 1. The record also includes structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs1231133405
- ClinGen CA352498847
- ClinVar RCV004007849
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.24
- MetaLR 0.50
- MetaSVM -0.27
- PolyPhen-2 0.25
- SIFT 0.12
- EVE 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available