H58D (p.His58Asp) variant of NCSTN (Nicastrin)
H58D (p.His58Asp) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H58D (p.His58Asp) variant details
- p.His58Asp
- ExAC rs765124362
- gnomAD rs765124362
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available