S8I (p.Ser8Ile) variant of PURA (Q00577)
S8I (p.Ser8Ile) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- gnomAD 5-140114204-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.40
- ESM-1b 0.36
- AlphaMissense 0.93
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available