K12N (p.Lys12Asn) variant of MECP2 (Methyl-CpG-binding protein 2)
K12N (p.Lys12Asn) 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 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- rs61754422
- ClinGen CA170293
- ClinVar RCV000133081
- ClinVar RCV003389405
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.44
- MetaLR 0.83
- MetaSVM 0.54
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.31
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)