I27V (p.Ile27Val) variant of PKLR (Pyruvate kinase PKLR)
I27V (p.Ile27Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- Ensembl rs1647978191
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.22
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available