A31P (p.Ala31Pro) variant of PKLR (Pyruvate kinase PKLR)
A31P (p.Ala31Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A31P (p.Ala31Pro) variant details
- p.Ala31Pro
- TOPMed rs1446138836
- gnomAD rs1446138836
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.61
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available