T70T (p.Thr70Thr) variant of CHAMP1 (Q96JM3)
T70T (p.Thr70Thr) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T70T (p.Thr70Thr) variant details
- p.Thr70Thr
- gnomAD 13-114324052-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- AlphaMissense 0.43
- MetaLR 0.19
- MetaSVM -0.72
- CADD 9.98
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available