I7K (p.Ile7Lys) variant of PKLR (Pyruvate kinase PKLR)
I7K (p.Ile7Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
I7K (p.Ile7Lys) variant details
- p.Ile7Lys
- ExAC rs762490269
- gnomAD rs762490269
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.32
- CADD 1.81
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available