N133K (p.Asn133Lys) variant of PKLR (Pyruvate kinase PKLR)
N133K (p.Asn133Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
N133K (p.Asn133Lys) variant details
- p.Asn133Lys
- ExAC rs749817706
- TOPMed rs749817706
- gnomAD rs749817706
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.65
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available