P43R (p.Pro43Arg) variant of NCSTN (Nicastrin)
P43R (p.Pro43Arg) 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 0.48 / 1. The record also includes population frequency data and structural context.
P43R (p.Pro43Arg) variant details
- p.Pro43Arg
- ExAC rs762493645
- TOPMed rs762493645
- gnomAD rs762493645
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 21.50
- PolyPhen-2 0.05
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available