T49S (p.Thr49Ser) variant of PRKAA1 (Q13131)
T49S (p.Thr49Ser) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- ExAC rs780649839
- TOPMed rs780649839
- gnomAD rs780649839
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.41
- MetaLR 0.12
- MetaSVM -1.01
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available