F14L (p.Phe14Leu) variant of ATL1 (Atlastin-1)
F14L (p.Phe14Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- gnomAD rs1287543679
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.21
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available