R64Q (p.Arg64Gln) variant of PRKAA1 (Q13131)
R64Q (p.Arg64Gln) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- cosmic curated COSV57184
- gnomAD rs1261017903
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.23
- MetaLR 0.25
- MetaSVM -0.60
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available