I141T (p.Ile141Thr) variant of CACNA1A (O00555)
I141T (p.Ile141Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; CACNA1A-related complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
I141T (p.Ile141Thr) variant details
- p.Ile141Thr
- rs2144936441
- ClinGen CA404967670
- ClinVar RCV002214096
- ClinVar RCV004785531
- Uncertain significance
- not provided; CACNA1A-related complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 0.94
- MetaLR 0.77
- MetaSVM 0.48
- PolyPhen-2 0.66
- SIFT 0.32
- MutPred 0.51
- ClinVar: Uncertain significance (not provided; CACNA1A-related complex neurodevelopmental disorde)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available