G7V (p.Gly7Val) variant of PURA (Q00577)
G7V (p.Gly7Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- gnomAD rs1763034584
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available