G25R (p.Gly25Arg) variant of PURA (Q00577)
G25R (p.Gly25Arg) 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, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- gnomAD 5-140114254-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available