P22L (p.Pro22Leu) variant of MECOM (Q03112)
P22L (p.Pro22Leu) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- TOPMed rs1453120808
- gnomAD rs1453120808
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)