A43T (p.Ala43Thr) variant of TRPM4 (Q8TD43)
A43T (p.Ala43Thr) 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; Erythrokeratodermia variabilis et prog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs112149155
- ClinGen CA9568699
- ClinVar RCV000645469
- ClinVar RCV002369709
- Uncertain significance
- Progressive familial heart block type IB; Erythrokeratodermia variabilis et prog
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.24
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Erythrokeratodermia va)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available