R10Q (p.Arg10Gln) variant of PRKAA2 (P54646)
R10Q (p.Arg10Gln) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- gnomAD 1-56645416-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -1.01
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available