T24P (p.Thr24Pro) variant of FLNC (Filamin-C)
T24P (p.Thr24Pro) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FLNC-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T24P (p.Thr24Pro) variant details
- p.Thr24Pro
- rs2536604955
- ClinGen CA369215592
- ClinVar RCV003404225
- Uncertain significance
- FLNC-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (FLNC-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available