S100T (p.Ser100Thr) variant of PKLR (Pyruvate kinase PKLR)
S100T (p.Ser100Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S100T (p.Ser100Thr) variant details
- p.Ser100Thr
- ExAC rs762661462
- gnomAD rs762661462
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.71
- CADD 22.70
- PolyPhen-2 0.27
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available