V77I (p.Val77Ile) variant of CHAMP1 (Q96JM3)
V77I (p.Val77Ile) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V77I (p.Val77Ile) variant details
- p.Val77Ile
- gnomAD 13-114324071-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available