T28I (p.Thr28Ile) variant of TRPM4 (Q8TD43)
T28I (p.Thr28Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- rs1368982955
- ClinGen CA406788124
- ClinVar RCV002735227
- ClinVar RCV004765555
- Uncertain significance
- Progressive familial heart block type IB; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- ESM-1b 0.47
- AlphaMissense 0.12
- CADD 11.10
- PolyPhen-2 0.14
- SIFT 0.23
- ClinVar: Uncertain significance (Progressive familial heart block type IB; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available