S53G (p.Ser53Gly) variant of MECOM (Q03112)
S53G (p.Ser53Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- Ensembl rs1732361252
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 17.10
- Most common in the South Asian population (allele frequency 0.00021)