H23N (p.His23Asn) variant of PURA (Q00577)
H23N (p.His23Asn) 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.
H23N (p.His23Asn) variant details
- p.His23Asn
- gnomAD 5-140114248-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available