R9S (p.Arg9Ser) variant of MECP2 (Methyl-CpG-binding protein 2)
R9S (p.Arg9Ser) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57651
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- MetaLR 0.74
- MetaSVM 0.67
- CADD 22.10
- SIFT 0.52
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.35