T3T (p.Thr3Thr) variant of LMNA (Prelamin-A/C)
T3T (p.Thr3Thr) in LMNA (Prelamin-A/C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T3T (p.Thr3Thr) variant details
- p.Thr3Thr
- gnomAD 1-156114927-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 13.70
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available