E50D (p.Glu50Asp) variant of TRPM4 (Q8TD43)
E50D (p.Glu50Asp) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- gnomAD 19-49166098-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 19.70
- PolyPhen-2 0.09
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available