A48D (p.Ala48Asp) variant of TRPM4 (Q8TD43)
A48D (p.Ala48Asp) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- gnomAD 19-49166091-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.58
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available