S28L (p.Ser28Leu) variant of PURA (Q00577)
S28L (p.Ser28Leu) 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, published literature, and structural context.
S28L (p.Ser28Leu) variant details
- p.Ser28Leu
- gnomAD 5-140114264-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.50
- PolyPhen-2 0.31
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available