I1033M (p.Ile1033Met) variant of TRPM4 (Q8TD43)
I1033M (p.Ile1033Met) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Erythrokeratodermia variabilis et progressiva 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
I1033M (p.Ile1033Met) variant details
- p.Ile1033Met
- rs1278993777
- ClinGen CA406812954
- ClinVar RCV000808168
- UniProt VAR 083166
- Pathogenic
- Erythrokeratodermia variabilis et progressiva 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.24
- MetaSVM -0.69
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Erythrokeratodermia variabilis et progressiva 6)
- EBI: Pathogenic (in EKVP6)
- UniProt: Pathogenic (in EKVP6)
- Structural context available
- Cited in: Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia. (PMID 30528822)