R2K (p.Arg2Lys) variant of MECOM (Q03112)
R2K (p.Arg2Lys) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- Ensembl rs2110156907
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)