R39L (p.Arg39Leu) variant of TRPM4 (Q8TD43)
R39L (p.Arg39Leu) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R39L (p.Arg39Leu) variant details
- p.Arg39Leu
- gnomAD 19-49166064-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.05
- ESM-1b 0.16
- AlphaMissense 0.09
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available