P65A (p.Pro65Ala) variant of MYL3 (Myosin light chain 3)
P65A (p.Pro65Ala) 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 0.45 / 1. The record also includes structural context.
P65A (p.Pro65Ala) variant details
- p.Pro65Ala
- rs730880960
- ClinGen CA352498521
- ClinVar RCV001872356
- TOPMed rs730880960
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.19
- MetaLR 0.60
- MetaSVM -0.28
- PolyPhen-2 0.30
- SIFT 0.23
- EVE 0.10
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available