K3E (p.Lys3Glu) variant of ATL1 (Atlastin-1)
K3E (p.Lys3Glu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K3E (p.Lys3Glu) variant details
- p.Lys3Glu
- gnomAD rs1196523574
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available