S6L (p.Ser6Leu) variant of PRRT2 (Q7Z6L0)
S6L (p.Ser6Leu) in PRRT2 (Q7Z6L0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- gnomAD 16-29813070-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available