I108V (p.Ile108Val) variant of PKLR (Pyruvate kinase PKLR)
I108V (p.Ile108Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I108V (p.Ile108Val) variant details
- p.Ile108Val
- TOPMed rs1647550818
- gnomAD rs1647550818
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.56
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available