L58H (p.Leu58His) variant of ATL1 (Atlastin-1)
L58H (p.Leu58His) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L58H (p.Leu58His) variant details
- p.Leu58His
- gnomAD rs1204026974
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.73
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available