D29N (p.Asp29Asn) variant of TRPM4 (Q8TD43)
D29N (p.Asp29Asn) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- gnomAD 19-49158252-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 25.50
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available