A137V (p.Ala137Val) variant of PKLR (Pyruvate kinase PKLR)
A137V (p.Ala137Val) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar 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 0.83 / 1. The record also includes population frequency data and structural context.
A137V (p.Ala137Val) variant details
- p.Ala137Val
- rs1275173660
- gnomAD rs1275173660
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.85
- CADD 28.10
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available