P72L (p.Pro72Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
P72L (p.Pro72Leu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs61754440
- ClinGen CA170269
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57652
- Likely benign
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.14
- MetaLR 0.73
- MetaSVM 0.10
- PolyPhen-2 0.00
- SIFT 0.78
- EVE 0.14
- ClinVar: Likely benign (Rett syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.435
- Cited in: MECP2 Disorders. (PMID 20301670)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)