G7S (p.Gly7Ser) variant of PURA (Q00577)
G7S (p.Gly7Ser) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- Ensembl rs2126748516
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.70
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available