T57A (p.Thr57Ala) variant of NCSTN (Nicastrin)
T57A (p.Thr57Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T57A (p.Thr57Ala) variant details
- p.Thr57Ala
- Ensembl rs1648368576
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available