N100H (p.Asn100His) variant of CHAMP1 (Q96JM3)
N100H (p.Asn100His) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N100H (p.Asn100His) variant details
- p.Asn100His
- gnomAD 13-114324140-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available