I42V (p.Ile42Val) variant of NCSTN (Nicastrin)
I42V (p.Ile42Val) 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 0.20 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- rs200640464
- ClinGen CA1198608
- ClinVar RCV001910228
- ExAC rs200640464
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 16.50
- PolyPhen-2 0.02
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available