Q5P (p.Gln5Pro) variant of PRKAA2 (P54646)
Q5P (p.Gln5Pro) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- gnomAD 1-56645401-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available