G32R (p.Gly32Arg) variant of PURA (Q00577)
G32R (p.Gly32Arg) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- gnomAD 5-140114275-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available