H26T (p.His26Thr) variant of OPTN (Optineurin)
H26T (p.His26Thr) in OPTN (Optineurin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H26T (p.His26Thr) variant details
- p.His26Thr
- rs753966040
- gnomAD 10-13109191-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available