K107R (p.Lys107Arg) variant of MECP2 (Methyl-CpG-binding protein 2)
K107R (p.Lys107Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
K107R (p.Lys107Arg) variant details
- p.Lys107Arg
- rs2148666479
- ClinGen CA415176830
- ClinVar RCV001906666
- Ensembl rs2148666479
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.37
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MECP2 Disorders. (PMID 20301670)