G11V (p.Gly11Val) variant of PURA (Q00577)
G11V (p.Gly11Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 5-140114213-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available