P302A (p.Pro302Ala) variant of MECP2 (Methyl-CpG-binding protein 2)
P302A (p.Pro302Ala) 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 not provided; X-linked intellectual disability-psychosis-macroorchidism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P302A (p.Pro302Ala) variant details
- p.Pro302Ala
- rs61751373
- ClinGen CA270565
- ClinVar RCV000133277
- ClinVar RCV002247514
- Pathogenic
- not provided; X-linked intellectual disability-psychosis-macroorchidism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; X-linked intellectual disability-psychosis-macroor)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available
- Cited in: Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype… (PMID 11738883)
- Cited in: MECP2 Disorders. (PMID 20301670)