P54L (p.Pro54Leu) variant of RP2 (Protein XRP2)
P54L (p.Pro54Leu) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- rs2519913794
- ClinGen CA413038914
- ClinVar RCV002979639
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available