S26C (p.Ser26Cys) variant of PKLR (Pyruvate kinase PKLR)
S26C (p.Ser26Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S26C (p.Ser26Cys) variant details
- p.Ser26Cys
- ExAC rs747323509
- gnomAD rs747323509
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available