N14K (p.Asn14Lys) variant of DNM1 (Dynamin-1)
N14K (p.Asn14Lys) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- gnomAD 9-128203512-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.84
- CADD 25.00
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available