H32H (p.His32His) variant of CHAMP1 (Q96JM3)
H32H (p.His32His) in CHAMP1 (Q96JM3) is a synonymous 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.
H32H (p.His32His) variant details
- p.His32His
- gnomAD 13-114323938-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 8.80
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available