S59A (p.Ser59Ala) variant of ATL1 (Atlastin-1)
S59A (p.Ser59Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S59A (p.Ser59Ala) variant details
- p.Ser59Ala
- TOPMed rs955736784
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.09
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available