F23L (p.Phe23Leu) variant of TRPM4 (Q8TD43)
F23L (p.Phe23Leu) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- rs760887443
- ClinGen CA9568655
- ClinVar RCV002012074
- ClinVar RCV006558099
- Uncertain significance
- not provided; Cardiovascular phenotype; Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Progressive familial hea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available