L100V (p.Leu100Val) variant of MECP2 (Methyl-CpG-binding protein 2)
L100V (p.Leu100Val) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L100V (p.Leu100Val) variant details
- p.Leu100Val
- rs28935168
- ClinGen CA198822
- ClinVar RCV000012608
- ClinVar RCV000498874
- Pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.69
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of… (PMID 11055898)
- Cited in: Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. (PMID 12966522)