S26W (p.Ser26Trp) variant of PURA (Q00577)
S26W (p.Ser26Trp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S26W (p.Ser26Trp) variant details
- p.Ser26Trp
- gnomAD 5-140114258-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 23.70
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the East Asian population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available