D5N (p.Asp5Asn) variant of PURA (Q00577)
D5N (p.Asp5Asn) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- gnomAD 5-140114194-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- ESM-1b 0.22
- AlphaMissense 0.93
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available