L14S (p.Leu14Ser) variant of CHAMP1 (Q96JM3)
L14S (p.Leu14Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L14S (p.Leu14Ser) variant details
- p.Leu14Ser
- gnomAD 13-114323883-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.16
- ESM-1b 0.91
- AlphaMissense 0.69
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available