I29T (p.Ile29Thr) variant of PKLR (Pyruvate kinase PKLR)
I29T (p.Ile29Thr) 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 0.21 / 1. The record also includes population frequency data and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- rs142735355
- ESP rs142735355
- ExAC rs142735355
- TOPMed rs142735355
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.31
- CADD 2.66
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available