T21A (p.Thr21Ala) variant of PRKAA2 (P54646)
T21A (p.Thr21Ala) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- gnomAD 1-56645448-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- MetaLR 0.09
- MetaSVM -1.10
- CADD 25.70
- PolyPhen-2 0.76
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available