H23Y (p.His23Tyr) variant of PURA (Q00577)
H23Y (p.His23Tyr) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H23Y (p.His23Tyr) variant details
- p.His23Tyr
- gnomAD rs1179950432
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available