D8H (p.Asp8His) variant of PRKAA2 (P54646)
D8H (p.Asp8His) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D8H (p.Asp8His) variant details
- p.Asp8His
- gnomAD rs1235784068
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.19
- MetaLR 0.21
- MetaSVM -0.75
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available