P4T (p.Pro4Thr) variant of TRPM4 (Q8TD43)
P4T (p.Pro4Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD rs1280227892
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 2.98
- PolyPhen-2 0.01
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available