N14D (p.Asn14Asp) variant of DNM1 (Dynamin-1)
N14D (p.Asn14Asp) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N14D (p.Asn14Asp) variant details
- p.Asn14Asp
- gnomAD 9-128203510-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.87
- CADD 26.90
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available