Q5H (p.Gln5His) variant of CHAMP1 (Q96JM3)
Q5H (p.Gln5His) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- gnomAD 13-114323857-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available