L30P (p.Leu30Pro) variant of PRKAR1A (P10644)
L30P (p.Leu30Pro) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 17-68515488-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available