S8R (p.Ser8Arg) variant of PURA (Q00577)
S8R (p.Ser8Arg) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- Ensembl rs1763034632
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available