W10C (p.Trp10Cys) variant of TRPM4 (Q8TD43)
W10C (p.Trp10Cys) 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 0.73 / 1. The record also includes population frequency data and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs893456469
- ClinGen CA406787850
- cosmic curated COSV53259
- ClinVar RCV004277576
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.80
- ESM-1b 0.52
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.43
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available