G37S (p.Gly37Ser) variant of PURA (Q00577)
G37S (p.Gly37Ser) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- gnomAD 5-140114290-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.36
- ESM-1b 0.60
- AlphaMissense 0.09
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available