S8G (p.Ser8Gly) variant of PURA (Q00577)
S8G (p.Ser8Gly) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- Ensembl rs1763034632
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)
- Structural context available