G36C (p.Gly36Cys) variant of PURA (Q00577)
G36C (p.Gly36Cys) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G36C (p.Gly36Cys) variant details
- p.Gly36Cys
- gnomAD 5-140114287-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available