D29H (p.Asp29His) variant of TRPM4 (Q8TD43)
D29H (p.Asp29His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D29H (p.Asp29His) variant details
- p.Asp29His
- rs2041555070
- ClinGen CA406788128
- ClinVar RCV003609423
- TOPMed rs2041555070
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available