K78N (p.Lys78Asn) variant of ATL1 (Atlastin-1)
K78N (p.Lys78Asn) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K78N (p.Lys78Asn) variant details
- p.Lys78Asn
- gnomAD 14-50588030-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.47
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available