I28F (p.Ile28Phe) variant of PRKAA1 (Q13131)
I28F (p.Ile28Phe) in PRKAA1 (Q13131) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I28F (p.Ile28Phe) variant details
- p.Ile28Phe
- cosmic curated COSV10643
- gnomAD rs1209624022
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.25
- MetaLR 0.16
- MetaSVM -0.97
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available