A43V (p.Ala43Val) variant of TRPM4 (Q8TD43)
A43V (p.Ala43Val) 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.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- gnomAD 19-49166076-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0845
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 5.05
- PolyPhen-2 0.06
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available