N126D (p.Asn126Asp) variant of MECP2 (Methyl-CpG-binding protein 2)
N126D (p.Asn126Asp) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
N126D (p.Asn126Asp) variant details
- p.Asn126Asp
- rs1064796513
- ClinGen CA16621247
- ClinVar RCV000478123
- Ensembl rs1064796513
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available