P82A (p.Pro82Ala) variant of PKLR (Pyruvate kinase PKLR)
P82A (p.Pro82Ala) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- ESP rs151005140
- ExAC rs151005140
- TOPMed rs151005140
- gnomAD rs151005140
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- CADD 22.80
- PolyPhen-2 0.97
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available