P65T (p.Pro65Thr) variant of MYL3 (Myosin light chain 3)
P65T (p.Pro65Thr) 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 0.64 / 1. The record also includes population frequency data and structural context.
P65T (p.Pro65Thr) variant details
- p.Pro65Thr
- rs730880960
- ClinGen CA352498523
- ClinVar RCV004016826
- TOPMed rs730880960
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.67
- AlphaMissense 0.19
- MetaLR 0.60
- MetaSVM -0.28
- CADD 24.20
- PolyPhen-2 0.30
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available