M44T (p.Met44Thr) variant of FH (P07954)
M44T (p.Met44Thr) in FH (P07954) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
M44T (p.Met44Thr) variant details
- p.Met44Thr
- TOPMed rs1296948655
- gnomAD rs1296948655
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.46
- CADD 24.20
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available