A132T (p.Ala132Thr) variant of PKLR (Pyruvate kinase PKLR)
A132T (p.Ala132Thr) 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 0.47 / 1. The record also includes population frequency data and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- gnomAD rs1647536192
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- NCI-TCGA Cosmic COSV6136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.45
- CADD 22.10
- PolyPhen-2 0.15
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available