S8N (p.Ser8Asn) variant of PURA (Q00577)
S8N (p.Ser8Asn) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- gnomAD 5-140114204-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.33
- ESM-1b 0.21
- AlphaMissense 0.76
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available