A24V (p.Ala24Val) variant of PKLR (Pyruvate kinase PKLR)
A24V (p.Ala24Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- TOPMed rs1394682499
- gnomAD rs1394682499
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.28
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available