A31T (p.Ala31Thr) variant of PKLR (Pyruvate kinase PKLR)
A31T (p.Ala31Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- TOPMed rs1446138836
- gnomAD rs1446138836
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.52
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available