T35T (p.Thr35Thr) variant of CHAMP1 (Q96JM3)
T35T (p.Thr35Thr) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T35T (p.Thr35Thr) variant details
- p.Thr35Thr
- gnomAD 13-114323947-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 9.42
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available
- Literature evidence available