M49V (p.Met49Val) variant of TRPM4 (Q8TD43)
M49V (p.Met49Val) in TRPM4 (Q8TD43) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
M49V (p.Met49Val) variant details
- p.Met49Val
- TOPMed rs932987690
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.05
- MetaSVM -1.02
- CADD 4.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available