T21M (p.Thr21Met) variant of TRPM4 (Q8TD43)
T21M (p.Thr21Met) 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; Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- rs1399916515
- ClinGen CA406788030
- cosmic curated COSV53256
- ClinVar RCV001205894
- Uncertain significance
- Cardiovascular phenotype; Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- ESM-1b 0.51
- AlphaMissense 0.17
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Progressive familial heart block type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available