F46F (p.Phe46Phe) variant of ATL1 (Atlastin-1)
F46F (p.Phe46Phe) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F46F (p.Phe46Phe) variant details
- p.Phe46Phe
- gnomAD 14-50587934-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 13.60
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available