G11S (p.Gly11Ser) variant of PURA (Q00577)
G11S (p.Gly11Ser) 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, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- gnomAD 5-140114212-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available