L21M (p.Leu21Met) variant of PURA (Q00577)
L21M (p.Leu21Met) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 5-140114242-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available