M112V (p.Met112Val) variant of PKLR (Pyruvate kinase PKLR)
M112V (p.Met112Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M112V (p.Met112Val) variant details
- p.Met112Val
- ExAC rs746377052
- TOPMed rs746377052
- gnomAD rs746377052
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.87
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available