T39I (p.Thr39Ile) variant of PYGM (P11217)
T39I (p.Thr39Ile) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- Ensembl rs897159798
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 24.70
- PolyPhen-2 0.86
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available