K6N (p.Lys6Asn) variant of TRPM4 (Q8TD43)
K6N (p.Lys6Asn) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- rs2122723185
- ClinGen CA406787698
- ClinVar RCV003301670
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- ESM-1b 0.28
- AlphaMissense 0.51
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available