R51K (p.Arg51Lys) variant of PRKAR1A (P10644)
R51K (p.Arg51Lys) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- gnomAD 17-68515551-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Literature evidence available