S5N (p.Ser5Asn) variant of PRRT2 (Q7Z6L0)
S5N (p.Ser5Asn) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- ExAC rs745742339
- TOPMed rs745742339
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.12
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available