V77L (p.Val77Leu) variant of CHAMP1 (Q96JM3)
V77L (p.Val77Leu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V77L (p.Val77Leu) variant details
- p.Val77Leu
- gnomAD 13-114324071-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.91
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available