T53I (p.Thr53Ile) variant of PKLR (Pyruvate kinase PKLR)
T53I (p.Thr53Ile) 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 0.34 / 1. The record also includes population frequency data and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.38
- CADD 21.30
- PolyPhen-2 0.20
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available