I4T (p.Ile4Thr) variant of TNNC1 (P63316)
I4T (p.Ile4Thr) in TNNC1 (P63316) 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 0.35 / 1. The record also includes structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- rs2153230086
- ClinGen CA353170903
- ClinVar RCV001756494
- Ensembl rs2153230086
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.30
- MetaLR 0.14
- MetaSVM -0.93
- PolyPhen-2 0.06
- SIFT 0.26
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available