T82T (p.Thr82Thr) variant of CHAMP1 (Q96JM3)
T82T (p.Thr82Thr) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T82T (p.Thr82Thr) variant details
- p.Thr82Thr
- gnomAD 13-114324088-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0929
- CADD 1.73
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available