G38S (p.Gly38Ser) variant of DNM1 (Dynamin-1)
G38S (p.Gly38Ser) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Developmental and epileptic encephalopathy, 31A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- rs1131692025
- ClinGen CA375006653
- ClinVar RCV000493617
- ClinVar RCV000988256
- Conflicting interpretations
- not provided; Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Developmental and epileptic encephalopathy, 31A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available