P40H (p.Pro40His) variant of TRPM4 (Q8TD43)
P40H (p.Pro40His) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P40H (p.Pro40His) variant details
- p.Pro40His
- gnomAD 19-49166067-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.24
- ESM-1b 0.99
- AlphaMissense 0.11
- CADD 17.50
- PolyPhen-2 0.73
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available