E18K (p.Glu18Lys) variant of EYA1 (Protein phosphatase EYA1)
E18K (p.Glu18Lys) in EYA1 (Protein phosphatase EYA1) 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 0.34 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- NCI-TCGA Cosmic COSV5816
- cosmic curated COSV58163
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.96
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available