R64W (p.Arg64Trp) variant of PRKAA1 (Q13131)
R64W (p.Arg64Trp) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- cosmic curated COSV57184
- ESP rs369977975
- ExAC rs369977975
- TOPMed rs369977975
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.47
- MetaLR 0.49
- MetaSVM -0.04
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available