D8Y (p.Asp8Tyr) variant of PRKAA2 (P54646)
D8Y (p.Asp8Tyr) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- gnomAD rs1235784068
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.32
- MetaLR 0.25
- MetaSVM -0.56
- CADD 25.10
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available