Q49Q (p.Gln49Gln) variant of PRRT2 (Q7Z6L0)
Q49Q (p.Gln49Gln) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q49Q (p.Gln49Gln) variant details
- p.Gln49Gln
- rs757890923
- gnomAD 16-29813201-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 1.27
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available