A35S (p.Ala35Ser) variant of DNM1 (Dynamin-1)
A35S (p.Ala35Ser) 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 0.80 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- rs1404767209
- ClinGen CA375006603
- ClinVar RCV000696313
- gnomAD rs1404767209
- Uncertain significance
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- CADD 29.30
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 31A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available