E20K (p.Glu20Lys) variant of ATL1 (Atlastin-1)
E20K (p.Glu20Lys) in ATL1 (Atlastin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs763902321
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- ExAC rs763902321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available