A43D (p.Ala43Asp) variant of TRPM4 (Q8TD43)
A43D (p.Ala43Asp) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- gnomAD 19-49166076-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0829
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 1.77
- PolyPhen-2 0.00
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available