M50I (p.Met50Ile) variant of PLN (Phospholamban)
M50I (p.Met50Ile) in PLN (Phospholamban) 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 0.63 / 1. The record also includes population frequency data and structural context.
M50I (p.Met50Ile) variant details
- p.Met50Ile
- rs2534334328
- ClinGen CA365546778
- ClinVar RCV003306374
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.62
- MetaLR 0.51
- MetaSVM -0.15
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available