Q30Q (p.Gln30Gln) variant of CHAMP1 (Q96JM3)
Q30Q (p.Gln30Gln) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Q30Q (p.Gln30Gln) variant details
- p.Gln30Gln
- gnomAD 13-114323932-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.20
- Population evidence available
- Structural context available
- Literature evidence available