K65N (p.Lys65Asn) variant of ATL1 (Atlastin-1)
K65N (p.Lys65Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.74
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available