M5I (p.Met5Ile) variant of MECP2 (Methyl-CpG-binding protein 2)
M5I (p.Met5Ile) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- cosmic curated COSV10514
- Ensembl rs2066832179
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- MetaLR 0.73
- MetaSVM -0.01
- CADD 20.60
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.0291