L28P (p.Leu28Pro) variant of PKLR (Pyruvate kinase PKLR)
L28P (p.Leu28Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- ExAC rs780370877
- gnomAD rs780370877
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.63
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available