M1T (p.Met1Thr) variant of TRPM4 (Q8TD43)
M1T (p.Met1Thr) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2041541781
- ClinGen CA406787607
- ClinVar RCV002587998
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- ESM-1b 0.44
- AlphaMissense 0.34
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available