Q16R (p.Gln16Arg) variant of PRKAA1 (Q13131)
Q16R (p.Gln16Arg) in PRKAA1 (Q13131) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a breast cancer sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- rs928784854
- cosmic curated COSV57183
- UniProt VAR 035622
- TOPMed rs928784854
- Uncertain significance
- in a breast cancer sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.07
- MetaLR 0.21
- MetaSVM -0.77
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Variant of uncertain significance (in a breast cancer sample)
- UniProt: Uncertain significance (in a breast cancer sample)
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)