A2V (p.Ala2Val) variant of PURA (Q00577)
A2V (p.Ala2Val) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs1763034279
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available