K13N (p.Lys13Asn) variant of TRPM4 (Q8TD43)
K13N (p.Lys13Asn) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- gnomAD 19-49158206-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 25.60
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available