R2H (p.Arg2His) variant of PRKAA1 (Q13131)
R2H (p.Arg2His) 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 0.34 / 1. The record also includes population frequency data and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- rs1426382824
- NCI-TCGA Cosmic COSV5718
- cosmic curated COSV57183
- gnomAD rs1426382824
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.1e-06)
- Structural context available