T58A (p.Thr58Ala) variant of FLNC (Filamin-C)
T58A (p.Thr58Ala) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
T58A (p.Thr58Ala) variant details
- p.Thr58Ala
- rs956092685
- ClinGen CA166207071
- ClinVar RCV003487831
- TOPMed rs956092685
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.71
- EVE 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available