D43D (p.Asp43Asp) variant of ATL1 (Atlastin-1)
D43D (p.Asp43Asp) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D43D (p.Asp43Asp) variant details
- p.Asp43Asp
- rs17850684
- gnomAD 14-50587925-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.90
- CADD 9.54
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)