R4Q (p.Arg4Gln) variant of PURA (Q00577)
R4Q (p.Arg4Gln) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- Ensembl rs1581035983
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 26.90
- PolyPhen-2 0.60
- SIFT 0.01
- Population evidence available
- Structural context available