I32I (p.Ile32Ile) variant of PRKAA2 (P54646)
I32I (p.Ile32Ile) in PRKAA2 (P54646) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I32I (p.Ile32Ile) variant details
- p.Ile32Ile
- gnomAD 1-56674382-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available