L50F (p.Leu50Phe) variant of PRKAR1A (P10644)
L50F (p.Leu50Phe) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- gnomAD rs1214905938
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 24.00
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available