E39K (p.Glu39Lys) variant of GABRB3 (P28472)
E39K (p.Glu39Lys) in GABRB3 (P28472) 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 0.43 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs1468792368
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10016
- gnomAD rs1468792368
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00048)
- Structural context available