A63T (p.Ala63Thr) variant of PKLR (Pyruvate kinase PKLR)
A63T (p.Ala63Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- rs1165604977
- TOPMed rs1165604977
- gnomAD rs1165604977
- ClinGen CA342758477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.65
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available