S20F (p.Ser20Phe) variant of PURA (Q00577)
S20F (p.Ser20Phe) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- TOPMed rs1210044420
- gnomAD rs1210044420
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- ESM-1b 0.36
- AlphaMissense 0.13
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00031)
- Structural context available