R103S (p.Arg103Ser) variant of PKLR (Pyruvate kinase PKLR)
R103S (p.Arg103Ser) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R103S (p.Arg103Ser) variant details
- p.Arg103Ser
- ExAC rs779765565
- TOPMed rs779765565
- gnomAD rs779765565
- cosmic curated COSV61360
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available