E5A (p.Glu5Ala) variant of TRPM4 (Q8TD43)
E5A (p.Glu5Ala) 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 0.27 / 1. The record also includes population frequency data and structural context.
E5A (p.Glu5Ala) variant details
- p.Glu5Ala
- rs2041542552
- ClinGen CA406787673
- ClinVar RCV003608932
- Ensembl rs2041542552
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.00
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available