R15G (p.Arg15Gly) variant of DNM1 (Dynamin-1)
R15G (p.Arg15Gly) 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 0.79 / 1. The record also includes structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs1320569379
- ClinGen CA375006324
- ClinVar RCV001992362
- gnomAD rs1320569379
- Uncertain significance
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.78
- MetaLR 0.82
- MetaSVM 0.66
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 31A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available