E6K (p.Glu6Lys) variant of RPGR (Q92834)
E6K (p.Glu6Lys) 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 0.16 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58832
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 12.80
- PolyPhen-2 0.08
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available