K105R (p.Lys105Arg) variant of PKLR (Pyruvate kinase PKLR)
K105R (p.Lys105Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K105R (p.Lys105Arg) variant details
- p.Lys105Arg
- TOPMed rs1647551634
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.44
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available