A14V (p.Ala14Val) variant of PURA (Q00577)
A14V (p.Ala14Val) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs1282141695
- ClinGen CA361489092
- ClinVar RCV002308742
- TOPMed rs1282141695
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available