T55I (p.Thr55Ile) variant of PRRT2 (Q7Z6L0)
T55I (p.Thr55Ile) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- gnomAD 16-29813218-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- CADD 0.76
- PolyPhen-2 0.13
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available