S40C (p.Ser40Cys) variant of MECOM (Q03112)
S40C (p.Ser40Cys) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- ExAC rs763161743
- TOPMed rs763161743
- gnomAD rs763161743
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)