S17F (p.Ser17Phe) variant of PKLR (Pyruvate kinase PKLR)
S17F (p.Ser17Phe) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- rs1442131020
- TOPMed rs1442131020
- gnomAD rs1442131020
- NCI-TCGA Cosmic COSV6136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.11
- MetaLR 0.91
- MetaSVM 1.09
- PolyPhen-2 0.01
- SIFT 0.13
- MutPred 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available