D51N (p.Asp51Asn) variant of TRPM4 (Q8TD43)
D51N (p.Asp51Asn) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- gnomAD 19-49166099-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available