Y106C (p.Tyr106Cys) variant of PRKAA1 (Q13131)
Y106C (p.Tyr106Cys) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Y106C (p.Tyr106Cys) variant details
- p.Tyr106Cys
- Ensembl rs913298651
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.77
- MetaLR 0.21
- MetaSVM -0.56
- CADD 28.50
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available