P48R (p.Pro48Arg) variant of MYL3 (Myosin light chain 3)
P48R (p.Pro48Arg) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- gnomAD rs1231133405
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.33
- AlphaMissense 0.24
- MetaLR 0.50
- MetaSVM -0.27
- CADD 22.40
- PolyPhen-2 0.25
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available