K55N (p.Lys55Asn) variant of SLC18A2 (Q05940)
K55N (p.Lys55Asn) in SLC18A2 (Q05940) 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 0.10 / 1. The record also includes population frequency data and structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- ExAC rs775694982
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10004
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- CADD 5.06
- PolyPhen-2 0.00
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available