E27K (p.Glu27Lys) variant of MECOM (Q03112)
E27K (p.Glu27Lys) in MECOM (Q03112) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs757020094
- NCI-TCGA Cosmic COSV1015
- cosmic curated COSV10152
- ExAC rs757020094
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.23
- CADD 17.70
- PolyPhen-2 0.09
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)