V101A (p.Val101Ala) variant of PKLR (Pyruvate kinase PKLR)
V101A (p.Val101Ala) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V101A (p.Val101Ala) variant details
- p.Val101Ala
- rs1572057758
- ClinGen CA342756349
- ClinVar RCV001001145
- Ensembl rs1572057758
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.84
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available