P63S (p.Pro63Ser) variant of MECOM (Q03112)
P63S (p.Pro63Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- cosmic curated COSV10753
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)