A137T (p.Ala137Thr) variant of PKLR (Pyruvate kinase PKLR)
A137T (p.Ala137Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A137T (p.Ala137Thr) variant details
- p.Ala137Thr
- gnomAD rs1452107518
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- CADD 25.60
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available