M49L (p.Met49Leu) variant of TRPM4 (Q8TD43)
M49L (p.Met49Leu) 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 0.23 / 1. The record also includes structural context.
M49L (p.Met49Leu) variant details
- p.Met49Leu
- rs932987690
- ClinGen CA406789440
- ClinVar RCV002394769
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.05
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available