T20T (p.Thr20Thr) variant of CFTR (P13569)
T20T (p.Thr20Thr) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T20T (p.Thr20Thr) variant details
- p.Thr20Thr
- rs534609552
- gnomAD 7-117504259-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 9.40
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Literature evidence available