P43H (p.Pro43His) variant of NCSTN (Nicastrin)
P43H (p.Pro43His) in NCSTN (Nicastrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P43H (p.Pro43His) variant details
- p.Pro43His
- ExAC rs762493645
- TOPMed rs762493645
- gnomAD rs762493645
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available