N53N (p.Asn53Asn) variant of PRRT2 (Q7Z6L0)
N53N (p.Asn53Asn) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N53N (p.Asn53Asn) variant details
- p.Asn53Asn
- gnomAD 16-29813213-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 2.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available