I13T (p.Ile13Thr) variant of PRKAA2 (P54646)
I13T (p.Ile13Thr) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- gnomAD 1-56645425-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.38
- MetaLR 0.09
- MetaSVM -1.03
- CADD 28.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available