P152A (p.Pro152Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
P152A (p.Pro152Ala) 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 Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P152A (p.Pro152Ala) variant details
- p.Pro152Ala
- rs179363900
- ClinGen CA121717
- ClinVar RCV000012618
- ClinVar RCV000133115
- Likely pathogenic
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.17
- PolyPhen-2 0.90
- SIFT 0.05
- EVE 0.67
- ClinVar: Likely pathogenic (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Population evidence available
- Structural context available
- Cited in: A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. (PMID 18989701)
- Cited in: MECP2 Disorders. (PMID 20301670)