Q5Q (p.Gln5Gln) variant of CHAMP1 (Q96JM3)
Q5Q (p.Gln5Gln) 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.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- rs1555379315
- gnomAD 13-114323857-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 6.16
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available