T68N (p.Thr68Asn) variant of PKLR (Pyruvate kinase PKLR)
T68N (p.Thr68Asn) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T68N (p.Thr68Asn) variant details
- p.Thr68Asn
- TOPMed rs1647908455
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.54
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available