P48Q (p.Pro48Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
P48Q (p.Pro48Gln) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- rs1557137939
- gnomAD rs1557137939
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.10
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.28
- SIFT 0.00
- EVE 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.544