G35S (p.Gly35Ser) variant of PURA (Q00577)
G35S (p.Gly35Ser) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- gnomAD 5-140114284-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.25
- ESM-1b 0.53
- AlphaMissense 0.09
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available