K24R (p.Lys24Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K24R (p.Lys24Arg) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Severe neonatal-onset encephalopathy with microcephaly. 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.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- rs782344115
- ClinGen CA10558658
- ClinVar RCV000807863
- ExAC rs782344115
- Benign
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.12
- MetaLR 0.92
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.07
- EVE 0.21
- ClinVar: Benign (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.71
- Cited in: MECP2 Disorders. (PMID 20301670)