T33I (p.Thr33Ile) variant of PRNP (Major prion protein)
T33I (p.Thr33Ile) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- gnomAD 20-4699318-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.43
- CADD 21.40
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available