V3A (p.Val3Ala) variant of TRPM4 (Q8TD43)
V3A (p.Val3Ala) 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 0.13 / 1. The record also includes population frequency data and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- rs1600378229
- ClinGen CA406787646
- ClinVar RCV001988119
- TOPMed rs1600378229
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.23
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available