R21K (p.Arg21Lys) variant of PKLR (Pyruvate kinase PKLR)
R21K (p.Arg21Lys) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R21K (p.Arg21Lys) variant details
- p.Arg21Lys
- TOPMed rs1278895712
- gnomAD rs1278895712
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.35
- CADD 6.07
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available