L7F (p.Leu7Phe) variant of CHAMP1 (Q96JM3)
L7F (p.Leu7Phe) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- gnomAD 13-114323861-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.80
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available