R15Q (p.Arg15Gln) variant of DNM1 (Dynamin-1)
R15Q (p.Arg15Gln) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 31A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- rs763288862
- ClinGen CA5257720
- ClinVar RCV000545352
- ClinVar RCV003320688
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 31A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.46
- CADD 24.80
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 31A; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available