S6I (p.Ser6Ile) variant of PURA (Q00577)
S6I (p.Ser6Ile) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- gnomAD 5-140114198-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available