S6F (p.Ser6Phe) variant of PRKAA1 (Q13131)
S6F (p.Ser6Phe) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- TOPMed rs1286001321
- gnomAD rs1286001321
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 8.9e-05)
- Structural context available