A56T (p.Ala56Thr) variant of NCSTN (Nicastrin)
A56T (p.Ala56Thr) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs1325765596
- ClinGen CA343275359
- ClinVar RCV003011380
- gnomAD rs1325765596
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available