W15R (p.Trp15Arg) variant of PKLR (Pyruvate kinase PKLR)
W15R (p.Trp15Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
W15R (p.Trp15Arg) variant details
- p.Trp15Arg
- ExAC rs748703432
- TOPMed rs748703432
- gnomAD rs748703432
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.44
- CADD 7.55
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available