P63L (p.Pro63Leu) variant of MECOM (Q03112)
P63L (p.Pro63Leu) in MECOM (Q03112) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- cosmic curated COSV10753
- 1000Genomes rs369363004
- ESP rs369363004
- ExAC rs369363004
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)