A54T (p.Ala54Thr) variant of PKLR (Pyruvate kinase PKLR)
A54T (p.Ala54Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- Ensembl rs753089348
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.29
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available