A85T (p.Ala85Thr) variant of PKLR (Pyruvate kinase PKLR)
A85T (p.Ala85Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A85T (p.Ala85Thr) variant details
- p.Ala85Thr
- gnomAD rs1273516896
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.41
- CADD 14.70
- PolyPhen-2 0.18
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available