S48F (p.Ser48Phe) variant of MECOM (Q03112)
S48F (p.Ser48Phe) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- cosmic curated COSV10536
- TOPMed rs1380961098
- gnomAD rs1380961098
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)