R111K (p.Arg111Lys) variant of MECP2 (Methyl-CpG-binding protein 2)
R111K (p.Arg111Lys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R111K (p.Arg111Lys) variant details
- p.Arg111Lys
- rs1057518718
- ClinGen CA16043705
- ClinVar RCV000415409
- ClinVar RCV003144255
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.96
- SIFT 0.02
- EVE 0.69
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in RTT)
- UniProt: Likely pathogenic (in RTT)
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)