M2I (p.Met2Ile) variant of CHD2 (O14647)
M2I (p.Met2Ile) in CHD2 (O14647) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy 94. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- ExAC rs768049004
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.49
- MetaLR 0.71
- MetaSVM 0.51
- CADD 25.20
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available