I114T (p.Ile114Thr) variant of PKLR (Pyruvate kinase PKLR)
I114T (p.Ile114Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I114T (p.Ile114Thr) variant details
- p.Ile114Thr
- rs779517988
- ClinGen CA1144378
- ClinVar RCV001813027
- ExAC rs779517988
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 28.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available