A2S (p.Ala2Ser) variant of PURA (Q00577)
A2S (p.Ala2Ser) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 5-140114185-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available