E5D (p.Glu5Asp) variant of TRPM4 (Q8TD43)
E5D (p.Glu5Asp) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 19-49157881-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 24.70
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available