K4Q (p.Lys4Gln) variant of MYL3 (Myosin light chain 3)
K4Q (p.Lys4Gln) 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 not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- rs1404760917
- ClinGen CA352499966
- ClinVar RCV001723437
- ClinVar RCV005057550
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.92
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available