A14S (p.Ala14Ser) variant of PURA (Q00577)
A14S (p.Ala14Ser) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 5-140114221-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available