L21F (p.Leu21Phe) variant of MECP2 (Methyl-CpG-binding protein 2)
L21F (p.Leu21Phe) 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 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs782396283
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- ExAC rs782396283
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.11
- MetaLR 0.82
- MetaSVM 0.68
- PolyPhen-2 0.12
- SIFT 0.01
- EVE 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.286