P63R (p.Pro63Arg) variant of MECOM (Q03112)
P63R (p.Pro63Arg) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
P63R (p.Pro63Arg) variant details
- p.Pro63Arg
- rs369363004
- ClinGen CA2696704
- ClinVar RCV003907063
- ClinVar RCV005416749
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0032)