S58I (p.Ser58Ile) variant of CHAMP1 (Q96JM3)
S58I (p.Ser58Ile) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S58I (p.Ser58Ile) variant details
- p.Ser58Ile
- gnomAD 13-114324015-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.21
- ESM-1b 0.54
- AlphaMissense 0.96
- CADD 25.60
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available