S5R (p.Ser5Arg) variant of PRKAA1 (Q13131)
S5R (p.Ser5Arg) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- ExAC rs773228528
- gnomAD rs773228528
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.09
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available