I29V (p.Ile29Val) variant of PKLR (Pyruvate kinase PKLR)
I29V (p.Ile29Val) in PKLR (Pyruvate kinase PKLR) is a missense change. 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.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- Ensembl rs1647977935
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.29
- CADD 6.24
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available