V138L (p.Val138Leu) variant of PKLR (Pyruvate kinase PKLR)
V138L (p.Val138Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V138L (p.Val138Leu) variant details
- p.Val138Leu
- TOPMed rs1647534720
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.37
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available