K19T (p.Lys19Thr) variant of OPA1 (O60313)
K19T (p.Lys19Thr) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K19T (p.Lys19Thr) variant details
- p.Lys19Thr
- gnomAD 3-193614746-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.40
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available