T41I (p.Thr41Ile) variant of VCL (Vinculin)
T41I (p.Thr41Ile) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- rs1425074543
- ClinGen CA377255307
- ClinVar RCV002377940
- ClinVar RCV003120951
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.28
- MetaLR 0.21
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.12
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available