T105P (p.Thr105Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
T105P (p.Thr105Pro) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
T105P (p.Thr105Pro) variant details
- p.Thr105Pro
- rs1060499623
- ClinGen CA16609354
- ClinVar RCV000445577
- Ensembl rs1060499623
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available