S2L (p.Ser2Leu) variant of PKLR (Pyruvate kinase PKLR)
S2L (p.Ser2Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- ExAC rs774176341
- TOPMed rs774176341
- gnomAD rs774176341
- NCI-TCGA Cosmic COSV6136
- Uncertain significance
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.55
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Pyruvate kinase deficiency of red cells)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available