I13I (p.Ile13Ile) variant of PRKAA2 (P54646)
I13I (p.Ile13Ile) in PRKAA2 (P54646) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I13I (p.Ile13Ile) variant details
- p.Ile13Ile
- gnomAD 1-56645426-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 15.60
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available