Y115C (p.Tyr115Cys) variant of PRKAA1 (Q13131)
Y115C (p.Tyr115Cys) in PRKAA1 (Q13131) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
Y115C (p.Tyr115Cys) variant details
- p.Tyr115Cys
- rs1427249658
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99713
- gnomAD rs1427249658
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.70
- MetaLR 0.49
- MetaSVM 0.09
- CADD 29.50
- PolyPhen-2 0.92
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available