S87C (p.Ser87Cys) variant of PKLR (Pyruvate kinase PKLR)
S87C (p.Ser87Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. 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.
S87C (p.Ser87Cys) variant details
- p.Ser87Cys
- ExAC rs754454017
- TOPMed rs754454017
- gnomAD rs754454017
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.66
- CADD 23.60
- PolyPhen-2 0.88
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available