R41L (p.Arg41Leu) variant of TRPM4 (Q8TD43)
R41L (p.Arg41Leu) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- gnomAD 19-49166070-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available