D20E (p.Asp20Glu) variant of PRKAA2 (P54646)
D20E (p.Asp20Glu) 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, published literature, and structural context.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- gnomAD 1-56645447-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available