M112L (p.Met112Leu) variant of PKLR (Pyruvate kinase PKLR)
M112L (p.Met112Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
M112L (p.Met112Leu) variant details
- p.Met112Leu
- ExAC rs746377052
- TOPMed rs746377052
- gnomAD rs746377052
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.84
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available