A43S (p.Ala43Ser) variant of TRPM4 (Q8TD43)
A43S (p.Ala43Ser) in TRPM4 (Q8TD43) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- 1000Genomes rs112149155
- ESP rs112149155
- ExAC rs112149155
- TOPMed rs112149155
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.00
- PolyPhen-2 0.07
- SIFT 0.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available