p.Lys19 Glu23del variant of PRRT2 (Q7Z6L0)
p.Lys19 Glu23del in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys19 Glu23del variant details
- gnomAD 16-29813107-CCAAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 12.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available