E39K (p.Glu39Lys) variant of SLC34A3 (Q8N130)
E39K (p.Glu39Lys) in SLC34A3 (Q8N130) 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 0.27 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs759132724
- NCI-TCGA Cosmic COSV6318
- cosmic curated COSV63187
- ExAC rs759132724
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- MetaLR 0.06
- MetaSVM -1.06
- CADD 17.30
- PolyPhen-2 0.14
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available