H23L (p.His23Leu) variant of PURA (Q00577)
H23L (p.His23Leu) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H23L (p.His23Leu) variant details
- p.His23Leu
- gnomAD 5-140114249-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available
- Literature evidence available