L117R (p.Leu117Arg) variant of PKLR (Pyruvate kinase PKLR)
L117R (p.Leu117Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L117R (p.Leu117Arg) variant details
- p.Leu117Arg
- ExAC rs754282523
- gnomAD rs754282523
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.94
- AlphaMissense 0.35
- MetaLR 0.06
- MetaSVM -1.09
- CADD 29.90
- PolyPhen-2 0.98
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available