Q10R (p.Gln10Arg) variant of PURA (Q00577)
Q10R (p.Gln10Arg) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- gnomAD 5-140114210-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available