E138K (p.Glu138Lys) variant of ABCG2 (Q9UNQ0)
E138K (p.Glu138Lys) in ABCG2 (Q9UNQ0) 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 0.61 / 1. The record also includes population frequency data and structural context.
E138K (p.Glu138Lys) variant details
- p.Glu138Lys
- rs961438533
- NCI-TCGA Cosmic COSV5294
- NCI-TCGA Cosmic COSV9941
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.55
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available