I14N (p.Ile14Asn) variant of TRPM4 (Q8TD43)
I14N (p.Ile14Asn) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I14N (p.Ile14Asn) variant details
- p.Ile14Asn
- gnomAD 19-49158208-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.44
- ESM-1b 0.28
- AlphaMissense 0.35
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available