D30N (p.Asp30Asn) variant of DNM1 (Dynamin-1)
D30N (p.Asp30Asn) in DNM1 (Dynamin-1) is a missense change. 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.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- ExAC rs756572497
- gnomAD rs756572497
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.59
- CADD 28.70
- PolyPhen-2 0.48
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available