A36V (p.Ala36Val) variant of PKLR (Pyruvate kinase PKLR)
A36V (p.Ala36Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- ExAC rs770019694
- TOPMed rs770019694
- gnomAD rs770019694
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.38
- CADD 21.50
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available