T3M (p.Thr3Met) variant of NCSTN (Nicastrin)
T3M (p.Thr3Met) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T3M (p.Thr3Met) variant details
- p.Thr3Met
- gnomAD rs1435524419
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 24.60
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available