R86G (p.Arg86Gly) variant of PKLR (Pyruvate kinase PKLR)
R86G (p.Arg86Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R86G (p.Arg86Gly) variant details
- p.Arg86Gly
- rs752391774
- ClinGen CA1144419
- ClinVar RCV001508888
- ExAC rs752391774
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.90
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available