L21P (p.Leu21Pro) variant of MECP2 (Methyl-CpG-binding protein 2)
L21P (p.Leu21Pro) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- 1000Genomes rs1410143595
- TOPMed rs1410143595
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- CADD 28.40
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.286