R86C (p.Arg86Cys) variant of PKLR (Pyruvate kinase PKLR)
R86C (p.Arg86Cys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- ExAC rs752391774
- TOPMed rs752391774
- gnomAD rs752391774
- cosmic curated COSV10967
- Uncertain significance
- in CNSHA2
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.87
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.01
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available