T3T (p.Thr3Thr) variant of NCSTN (Nicastrin)
T3T (p.Thr3Thr) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T3T (p.Thr3Thr) variant details
- p.Thr3Thr
- rs201357529
- gnomAD 1-160343405-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.02
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available