T259M (p.Thr259Met) variant of RPGR (Q92834)
T259M (p.Thr259Met) in RPGR (Q92834) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T259M (p.Thr259Met) variant details
- p.Thr259Met
- cosmic curated COSV10517
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available