R40P (p.Arg40Pro) variant of PKLR (Pyruvate kinase PKLR)
R40P (p.Arg40Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CNSHA2. The record also includes structural context.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- ExAC rs745811076
- TOPMed rs745811076
- gnomAD rs745811076
- Uncertain significance
- in CNSHA2
- Missense
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Structural context available