P49S (p.Pro49Ser) variant of NCSTN (Nicastrin)
P49S (p.Pro49Ser) 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 0.67 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- rs1648366525
- ClinGen CA343275284
- ClinVar RCV001974201
- TOPMed rs1648366525
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.60
- ESM-1b 0.71
- AlphaMissense 0.28
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available