D89D (p.Asp89Asp) variant of CHAMP1 (Q96JM3)
D89D (p.Asp89Asp) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D89D (p.Asp89Asp) variant details
- p.Asp89Asp
- gnomAD 13-114324109-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 8.37
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available