T42A (p.Thr42Ala) variant of TRPM4 (Q8TD43)
T42A (p.Thr42Ala) 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 0.07 / 1. The record also includes population frequency data and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- rs762111515
- ClinGen CA9568697
- ClinVar RCV003380390
- ClinVar RCV006472582
- Uncertain significance
- Progressive familial heart block type IB; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0746
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.85
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available