D25H (p.Asp25His) variant of CHAMP1 (Q96JM3)
D25H (p.Asp25His) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D25H (p.Asp25His) variant details
- p.Asp25His
- gnomAD 13-114323915-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available