M107I (p.Met107Ile) variant of PKLR (Pyruvate kinase PKLR)
M107I (p.Met107Ile) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
M107I (p.Met107Ile) variant details
- p.Met107Ile
- TOPMed rs1647550981
- gnomAD rs1647550981
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- CADD 26.60
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available