Q36H (p.Gln36His) variant of TRPM4 (Q8TD43)
Q36H (p.Gln36His) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
Q36H (p.Gln36His) variant details
- p.Gln36His
- ExAC rs747457887
- gnomAD rs747457887
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available