A24T (p.Ala24Thr) variant of PKLR (Pyruvate kinase PKLR)
A24T (p.Ala24Thr) 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 0.23 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs754783713
- ClinGen CA30910008
- ClinVar RCV003886905
- TOPMed rs754783713
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.24
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available