T23I (p.Thr23Ile) variant of SDHD (O14521)
T23I (p.Thr23Ile) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD 11-112087872-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.48
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available