Q59H (p.Gln59His) variant of NCSTN (Nicastrin)
Q59H (p.Gln59His) 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 0.65 / 1. The record also includes population frequency data and structural context.
Q59H (p.Gln59His) variant details
- p.Gln59His
- rs1364710518
- ClinGen CA343275394
- ClinVar RCV003701360
- gnomAD rs1364710518
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available