S58N (p.Ser58Asn) variant of CHAMP1 (Q96JM3)
S58N (p.Ser58Asn) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S58N (p.Ser58Asn) variant details
- p.Ser58Asn
- gnomAD 13-114324015-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.18
- ESM-1b 0.83
- AlphaMissense 0.84
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available