T5T (p.Thr5Thr) variant of ELN (Elastin)
T5T (p.Thr5Thr) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T5T (p.Thr5Thr) variant details
- p.Thr5Thr
- rs782452483
- gnomAD 7-74028202-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.32
- Population evidence available
- Structural context available
- Literature evidence available