S6N (p.Ser6Asn) variant of PURA (Q00577)
S6N (p.Ser6Asn) 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, published literature, and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- gnomAD 5-140114198-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.21
- ESM-1b 0.74
- AlphaMissense 0.82
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available