K66N (p.Lys66Asn) variant of SLC6A3 (Q01959)
K66N (p.Lys66Asn) in SLC6A3 (Q01959) 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 0.42 / 1. The record also includes population frequency data and structural context.
K66N (p.Lys66Asn) variant details
- p.Lys66Asn
- NCI-TCGA Cosmic COSV9954
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.54
- MetaLR 0.48
- MetaSVM -0.22
- CADD 22.40
- PolyPhen-2 0.60
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available