Q56Q (p.Gln56Gln) variant of CHAMP1 (Q96JM3)
Q56Q (p.Gln56Gln) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q56Q (p.Gln56Gln) variant details
- p.Gln56Gln
- rs2087204882
- gnomAD 13-114324010-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.23
- MetaLR 0.16
- MetaSVM -0.95
- CADD 8.76
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available