S9T (p.Ser9Thr) variant of PRRT2 (Q7Z6L0)
S9T (p.Ser9Thr) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- rs749879243
- ExAC rs749879243
- gnomAD rs749879243
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.17
- CADD 13.40
- PolyPhen-2 0.27
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available