H15R (p.His15Arg) variant of PRKAA2 (P54646)
H15R (p.His15Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H15R (p.His15Arg) variant details
- p.His15Arg
- gnomAD 1-56645431-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.16
- MetaLR 0.02
- MetaSVM -1.04
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available