Q273H (p.Gln273His) variant of RPGR (Q92834)
Q273H (p.Gln273His) 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 0.24 / 1. The record also includes population frequency data and structural context.
Q273H (p.Gln273His) variant details
- p.Gln273His
- rs1390141758
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58832
- TOPMed rs1390141758
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available