A31D (p.Ala31Asp) variant of PKLR (Pyruvate kinase PKLR)
A31D (p.Ala31Asp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- ESP rs150077703
- ExAC rs150077703
- TOPMed rs150077703
- gnomAD rs150077703
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.63
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available