K13T (p.Lys13Thr) variant of TRPM4 (Q8TD43)
K13T (p.Lys13Thr) 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 0.41 / 1. The record also includes population frequency data and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- ExAC rs767972673
- TOPMed rs767972673
- gnomAD rs767972673
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 24.10
- PolyPhen-2 0.22
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available