A79S (p.Ala79Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
A79S (p.Ala79Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- rs1557137845
- ClinGen CA415177391
- ClinVar RCV000587702
- Ensembl rs1557137845
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.13
- MetaLR 0.80
- MetaSVM 0.42
- PolyPhen-2 0.00
- SIFT 0.07
- EVE 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available