P53A (p.Pro53Ala) variant of USH2A (Usherin)
P53A (p.Pro53Ala) in USH2A (Usherin) 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.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- rs2527655087
- ClinGen CA344904773
- ClinVar RCV003048180
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available