I45T (p.Ile45Thr) variant of SGCD (Delta-sarcoglycan)
I45T (p.Ile45Thr) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I45T (p.Ile45Thr) variant details
- p.Ile45Thr
- gnomAD 5-156344622-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.84
- ESM-1b 0.09
- AlphaMissense 0.89
- CADD 26.00
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available