A63G (p.Ala63Gly) variant of PKLR (Pyruvate kinase PKLR)
A63G (p.Ala63Gly) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A63G (p.Ala63Gly) variant details
- p.Ala63Gly
- rs886045353
- ClinGen CA10608274
- ClinVar RCV000342304
- ClinVar RCV003133211
- Uncertain significance
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.67
- CADD 28.20
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available