R129C (p.Arg129Cys) variant of PRKAA1 (Q13131)
R129C (p.Arg129Cys) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R129C (p.Arg129Cys) variant details
- p.Arg129Cys
- gnomAD rs1382671155
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.67
- MetaLR 0.48
- MetaSVM -0.09
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available