K97R (p.Lys97Arg) variant of MECOM (Q03112)
K97R (p.Lys97Arg) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
K97R (p.Lys97Arg) variant details
- p.Lys97Arg
- ExAC rs748025086
- gnomAD rs748025086
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)