A7D (p.Ala7Asp) variant of PRKAR1A (P10644)
A7D (p.Ala7Asp) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 17-68515419-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available