A48S (p.Ala48Ser) variant of RPGR (Q92834)
A48S (p.Ala48Ser) in RPGR (Q92834) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58836
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available