N133I (p.Asn133Ile) variant of PKLR (Pyruvate kinase PKLR)
N133I (p.Asn133Ile) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N133I (p.Asn133Ile) variant details
- p.Asn133Ile
- rs770337533
- ExAC rs770337533
- gnomAD rs770337533
- NCI-TCGA Cosmic COSV6136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.78
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available