T103A (p.Thr103Ala) variant of CHAMP1 (Q96JM3)
T103A (p.Thr103Ala) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T103A (p.Thr103Ala) variant details
- p.Thr103Ala
- gnomAD 13-114324149-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.51
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available