E3K (p.Glu3Lys) variant of RPGR (Q92834)
E3K (p.Glu3Lys) in RPGR (Q92834) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- cosmic curated COSV10589
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available