E101K (p.Glu101Lys) variant of MECOM (Q03112)
E101K (p.Glu101Lys) in MECOM (Q03112) 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 0.53 / 1. The record also includes population frequency data.
E101K (p.Glu101Lys) variant details
- p.Glu101Lys
- rs758678191
- NCI-TCGA Cosmic COSV7211
- cosmic curated COSV72110
- ExAC rs758678191
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)