M1L (p.Met1Leu) variant of TRPM4 (Q8TD43)
M1L (p.Met1Leu) in TRPM4 (Q8TD43) 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 0.34 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs969064041
- ClinGen CA406787603
- ClinVar RCV003380383
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- ESM-1b 0.45
- AlphaMissense 0.17
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available