G36R (p.Gly36Arg) variant of PURA (Q00577)
G36R (p.Gly36Arg) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- gnomAD 5-140114287-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available