G50G (p.Gly50Gly) variant of CHAMP1 (Q96JM3)
G50G (p.Gly50Gly) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G50G (p.Gly50Gly) variant details
- p.Gly50Gly
- rs1594128554
- gnomAD 13-114323992-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 6.84
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available