H49R (p.His49Arg) variant of CHD2 (O14647)
H49R (p.His49Arg) 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 0.31 / 1. The record also includes population frequency data and structural context.
H49R (p.His49Arg) variant details
- p.His49Arg
- TOPMed rs1038860028
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.08
- MetaLR 0.41
- MetaSVM -0.43
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available