N4D (p.Asn4Asp) variant of ATL1 (Atlastin-1)
N4D (p.Asn4Asp) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N4D (p.Asn4Asp) variant details
- p.Asn4Asp
- gnomAD 14-50560275-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available