D12G (p.Asp12Gly) variant of MYL3 (Myosin light chain 3)
D12G (p.Asp12Gly) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- rs2544972020
- ClinGen CA352499840
- ClinVar RCV004523037
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.19
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available