I7T (p.Ile7Thr) variant of PKLR (Pyruvate kinase PKLR)
I7T (p.Ile7Thr) 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 0.14 / 1. The record also includes population frequency data and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- rs762490269
- ExAC rs762490269
- gnomAD rs762490269
- ClinGen CA1144514
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.21
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available