Y19C (p.Tyr19Cys) variant of ATL1 (Atlastin-1)
Y19C (p.Tyr19Cys) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y19C (p.Tyr19Cys) variant details
- p.Tyr19Cys
- gnomAD 14-50587852-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available