P27S (p.Pro27Ser) variant of MYL3 (Myosin light chain 3)
P27S (p.Pro27Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs1248338056
- ClinGen CA352499653
- ClinVar RCV002035869
- ClinVar RCV005416616
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.25
- AlphaMissense 0.05
- MetaLR 0.40
- MetaSVM -0.68
- CADD 18.60
- PolyPhen-2 0.00
- 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