L21P (p.Leu21Pro) variant of NCSTN (Nicastrin)
L21P (p.Leu21Pro) 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 0.61 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs2525487202
- ClinGen CA343274460
- ClinVar RCV002856602
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 28.50
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available