S30Y (p.Ser30Tyr) variant of PURA (Q00577)
S30Y (p.Ser30Tyr) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- gnomAD 5-140114270-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available