A46T (p.Ala46Thr) variant of TRPM4 (Q8TD43)
A46T (p.Ala46Thr) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs751134895
- ClinGen CA9568702
- ClinVar RCV003609384
- ClinVar RCV006347745
- Uncertain significance
- Progressive familial heart block type IB; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.30
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available