V70L (p.Val70Leu) variant of ATL1 (Atlastin-1)
V70L (p.Val70Leu) 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 0.45 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- rs761583539
- ClinGen CA7180184
- ClinVar RCV003219067
- ExAC rs761583539
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.26
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available