T67H (p.Thr67His) variant of PPP2R5D (Q14738)
T67H (p.Thr67His) in PPP2R5D (Q14738) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T67H (p.Thr67His) variant details
- p.Thr67His
- gnomAD 6-43006549-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 24.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available