N345I (p.Asn345Ile) variant of RPGR (Q92834)
N345I (p.Asn345Ile) 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.
N345I (p.Asn345Ile) variant details
- p.Asn345Ile
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- Ensembl rs2067496129
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs41305223)
- Structural context available