D15A (p.Asp15Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
D15A (p.Asp15Ala) 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 Severe neonatal-onset encephalopathy with microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D15A (p.Asp15Ala) variant details
- p.Asp15Ala
- rs1557138051
- ClinGen CA415179037
- ClinVar RCV001317181
- gnomAD rs1557138051
- Uncertain significance
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.36
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.112
- Cited in: MECP2 Disorders. (PMID 20301670)