M54L (p.Met54Leu) variant of KCNJ5 (P48544)
M54L (p.Met54Leu) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M54L (p.Met54Leu) variant details
- p.Met54Leu
- rs1368008601
- ClinGen CA383246261
- ClinVar RCV001786053
- ClinVar RCV004996007
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.54
- MetaLR 0.63
- MetaSVM 0.11
- PolyPhen-2 0.04
- SIFT 0.00
- EVE 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available