G38V (p.Gly38Val) variant of TRPM4 (Q8TD43)
G38V (p.Gly38Val) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G38V (p.Gly38Val) variant details
- p.Gly38Val
- gnomAD 19-49166061-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available