A10T (p.Ala10Thr) variant of NCSTN (Nicastrin)
A10T (p.Ala10Thr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- TOPMed rs1648210105
- gnomAD rs1648210105
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available