Q5R (p.Gln5Arg) variant of PRKAA2 (P54646)
Q5R (p.Gln5Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- gnomAD rs1177666094
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.01
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available