L34M (p.Leu34Met) variant of TRPM4 (Q8TD43)
L34M (p.Leu34Met) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L34M (p.Leu34Met) variant details
- p.Leu34Met
- gnomAD 19-49166048-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.23
- ESM-1b 0.43
- AlphaMissense 0.11
- CADD 19.20
- PolyPhen-2 0.97
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available