H51Q (p.His51Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
H51Q (p.His51Gln) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H51Q (p.His51Gln) variant details
- p.His51Gln
- rs267608432
- ClinGen CA170260
- ClinVar RCV000133024
- ClinVar RCV001857482
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.10
- MetaLR 0.81
- MetaSVM 0.51
- PolyPhen-2 0.08
- SIFT 0.00
- EVE 0.07
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0118
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)