T19A (p.Thr19Ala) variant of TRPM4 (Q8TD43)
T19A (p.Thr19Ala) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- TOPMed rs906300951
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available