T24T (p.Thr24Thr) variant of CHAMP1 (Q96JM3)
T24T (p.Thr24Thr) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T24T (p.Thr24Thr) variant details
- p.Thr24Thr
- rs370877959
- gnomAD 13-114323914-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0953
- CADD 2.31
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available
- Literature evidence available