P17R (p.Pro17Arg) variant of MYL3 (Myosin light chain 3)
P17R (p.Pro17Arg) 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 0.30 / 1. The record also includes population frequency data and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- rs1244476739
- ClinGen CA352499772
- ClinVar RCV004015867
- TOPMed rs1244476739
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- CADD 16.00
- PolyPhen-2 0.04
- SIFT 0.15
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available