G25V (p.Gly25Val) variant of PURA (Q00577)
G25V (p.Gly25Val) 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.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- Ensembl rs1400853027
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.32
- ESM-1b 0.93
- AlphaMissense 0.10
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available