P24L (p.Pro24Leu) variant of PURA (Q00577)
P24L (p.Pro24Leu) 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.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- gnomAD 5-140114252-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 4.3e-05)
- Structural context available
- Literature evidence available