H58R (p.His58Arg) variant of NCSTN (Nicastrin)
H58R (p.His58Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
H58R (p.His58Arg) variant details
- p.His58Arg
- rs750149185
- ClinGen CA1198618
- ClinVar RCV002049119
- ExAC rs750149185
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available