P40T (p.Pro40Thr) variant of TRPM4 (Q8TD43)
P40T (p.Pro40Thr) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- gnomAD 19-49166066-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.09
- ESM-1b 0.76
- AlphaMissense 0.09
- CADD 6.62
- PolyPhen-2 0.26
- SIFT 0.42
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available