T21R (p.Thr21Arg) variant of PRKAA2 (P54646)
T21R (p.Thr21Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T21R (p.Thr21Arg) variant details
- p.Thr21Arg
- TOPMed rs1646631800
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.44
- MetaLR 0.10
- MetaSVM -0.96
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available