F15L (p.Phe15Leu) variant of TRPM4 (Q8TD43)
F15L (p.Phe15Leu) 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; Progressive familial heart block type IB; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- rs1009277467
- ClinGen CA309425015
- NCI-TCGA Cosmic COSV5325
- cosmic curated COSV53256
- Uncertain significance
- not provided; Progressive familial heart block type IB; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.32
- ESM-1b 0.48
- AlphaMissense 0.90
- CADD 25.90
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Progressive familial heart block type IB; Cardiova)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available