S53N (p.Ser53Asn) variant of MECOM (Q03112)
S53N (p.Ser53Asn) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- ExAC rs770881104
- TOPMed rs770881104
- gnomAD rs770881104
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)