S113F (p.Ser113Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
S113F (p.Ser113Phe) 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 0.89 / 1. The record also includes population frequency data and structural context.
S113F (p.Ser113Phe) variant details
- p.Ser113Phe
- rs781871640
- NCI-TCGA Cosmic COSV1003
- ExAC rs781871640
- gnomAD rs781871640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available