V13A (p.Val13Ala) variant of DNM1 (Dynamin-1)
V13A (p.Val13Ala) 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 0.62 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs969698049
- ClinGen CA200334489
- ClinVar RCV002013560
- TOPMed rs969698049
- Uncertain significance
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 31A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available