S45F (p.Ser45Phe) variant of ATL1 (Atlastin-1)
S45F (p.Ser45Phe) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- gnomAD 14-50587930-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.54
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available