L38L (p.Leu38Leu) variant of PRRT2 (Q7Z6L0)
L38L (p.Leu38Leu) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L38L (p.Leu38Leu) variant details
- p.Leu38Leu
- rs1208143772
- gnomAD 16-29813166-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 8.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available