S140R (p.Ser140Arg) variant of PKLR (Pyruvate kinase PKLR)
S140R (p.Ser140Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S140R (p.Ser140Arg) variant details
- p.Ser140Arg
- ExAC rs781504670
- gnomAD rs781504670
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.58
- CADD 22.20
- PolyPhen-2 0.28
- SIFT 0.29
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available