G22R (p.Gly22Arg) variant of PURA (Q00577)
G22R (p.Gly22Arg) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- gnomAD rs1763035899
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 4.4e-05)
- Structural context available