R4H (p.Arg4His) variant of DNM1 (Dynamin-1)
R4H (p.Arg4His) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 31A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- rs1833612913
- ClinGen CA375006181
- ClinVar RCV003753808
- TOPMed rs1833612913
- Uncertain significance
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.55
- CADD 25.50
- PolyPhen-2 0.31
- SIFT 0.03
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 31A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available