A48V (p.Ala48Val) variant of TRPM4 (Q8TD43)
A48V (p.Ala48Val) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- gnomAD 19-49166091-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available