S62F (p.Ser62Phe) variant of MECOM (Q03112)
S62F (p.Ser62Phe) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
S62F (p.Ser62Phe) variant details
- p.Ser62Phe
- Ensembl rs867856609
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)