S17T (p.Ser17Thr) variant of PURA (Q00577)
S17T (p.Ser17Thr) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- gnomAD 5-140114230-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available