I8T (p.Ile8Thr) variant of PRRT2 (Q7Z6L0)
I8T (p.Ile8Thr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- Ensembl rs1900056922
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.09
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available