A31V (p.Ala31Val) variant of PKLR (Pyruvate kinase PKLR)
A31V (p.Ala31Val) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs150077703
- ClinGen CA1144505
- ClinVar RCV001096025
- ClinVar RCV001508890
- Conflicting interpretations
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.08)
- Structural context available