I11V (p.Ile11Val) variant of TRPM4 (Q8TD43)
I11V (p.Ile11Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- rs1396348949
- ClinGen CA406787852
- ClinVar RCV002322949
- ClinVar RCV006616669
- Uncertain significance
- Cardiovascular phenotype; Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; Progressive familial heart block type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available