T19S (p.Thr19Ser) variant of TRPM4 (Q8TD43)
T19S (p.Thr19Ser) 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, published literature, and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- gnomAD 19-49158223-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.30
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available