D43N (p.Asp43Asn) variant of ATL1 (Atlastin-1)
D43N (p.Asp43Asn) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs1417905777
- ClinGen CA389665481
- ClinVar RCV000658147
- gnomAD rs1417905777
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.31
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs17850684)
- UniProt: Uncertain significance (in dbSNP:rs17850684)
- Population evidence available
- Structural context available