L15P (p.Leu15Pro) variant of PURA (Q00577)
L15P (p.Leu15Pro) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs2126748545
- ClinGen CA361489095
- ClinVar RCV002263391
- Ensembl rs2126748545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.32
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available