A11T (p.Ala11Thr) variant of PRKAA1 (Q13131)
A11T (p.Ala11Thr) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- ExAC rs748031628
- gnomAD rs748031628
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.21
- MetaLR 0.28
- MetaSVM -0.81
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available