R4L (p.Arg4Leu) variant of PURA (Q00577)
R4L (p.Arg4Leu) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 5-140114192-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.75
- CADD 27.50
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available