P30S (p.Pro30Ser) variant of MECOM (Q03112)
P30S (p.Pro30Ser) 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.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs1732375934
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the East Asian population (allele frequency 2.5e-05)