G230S (p.Gly230Ser) variant of RPGR (Q92834)
G230S (p.Gly230Ser) in RPGR (Q92834) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G230S (p.Gly230Ser) variant details
- p.Gly230Ser
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58834
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0733
- CADD 0.01
- PolyPhen-2 0.04
- SIFT 0.82
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available