D104D (p.Asp104Asp) variant of CHAMP1 (Q96JM3)
D104D (p.Asp104Asp) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
D104D (p.Asp104Asp) variant details
- p.Asp104Asp
- gnomAD 13-114324154-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.81
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available