S15S (p.Ser15Ser) variant of ATL1 (Atlastin-1)
S15S (p.Ser15Ser) in ATL1 (Atlastin-1) is a synonymous 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.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- rs775540772
- gnomAD 14-50587841-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 8.92
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available