H18Q (p.His18Gln) variant of CHAMP1 (Q96JM3)
H18Q (p.His18Gln) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H18Q (p.His18Gln) variant details
- p.His18Gln
- gnomAD 13-114323896-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available
- Literature evidence available