T103I (p.Thr103Ile) variant of CHAMP1 (Q96JM3)
T103I (p.Thr103Ile) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T103I (p.Thr103Ile) variant details
- p.Thr103Ile
- gnomAD 13-114324150-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 7.63
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available