S20Y (p.Ser20Tyr) variant of PURA (Q00577)
S20Y (p.Ser20Tyr) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S20Y (p.Ser20Tyr) variant details
- p.Ser20Tyr
- TOPMed rs1210044420
- gnomAD rs1210044420
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.18
- ESM-1b 0.68
- AlphaMissense 0.16
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available