L21R (p.Leu21Arg) variant of PURA (Q00577)
L21R (p.Leu21Arg) in PURA (Q00577) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- rs2479503825
- ClinGen CA1139532823
- ClinVar RCV002472251
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available