S3F (p.Ser3Phe) variant of MECOM (Q03112)
S3F (p.Ser3Phe) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- ExAC rs775492251
- TOPMed rs775492251
- gnomAD rs775492251
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 25.00
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.7e-05)