T3A (p.Thr3Ala) variant of NCSTN (Nicastrin)
T3A (p.Thr3Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- gnomAD 1-160343403-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 20.50
- PolyPhen-2 0.14
- SIFT 0.17
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available