S6G (p.Ser6Gly) variant of PURA (Q00577)
S6G (p.Ser6Gly) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- gnomAD 5-140114197-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available