S2W (p.Ser2Trp) variant of PKLR (Pyruvate kinase PKLR)
S2W (p.Ser2Trp) 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.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- ExAC rs774176341
- TOPMed rs774176341
- gnomAD rs774176341
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.54
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available