T21M (p.Thr21Met) variant of PRKAA2 (P54646)
T21M (p.Thr21Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- gnomAD 1-56645449-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.44
- MetaLR 0.13
- MetaSVM -0.92
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available