D11H (p.Asp11His) variant of NCSTN (Nicastrin)
D11H (p.Asp11His) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D11H (p.Asp11His) variant details
- p.Asp11His
- TOPMed rs1648210558
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available