A19S (p.Ala19Ser) variant of DNM1 (Dynamin-1)
A19S (p.Ala19Ser) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs1131691398
- ClinGen CA375006374
- ClinVar RCV000493106
- gnomAD rs1131691398
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available