V67A (p.Val67Ala) variant of ATL1 (Atlastin-1)
V67A (p.Val67Ala) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V67A (p.Val67Ala) variant details
- p.Val67Ala
- rs768342546
- ClinGen CA7180182
- ClinVar RCV001398337
- ExAC rs768342546
- Likely benign
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.76
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Likely benign (Hereditary spastic paraplegia 3A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)