G33V (p.Gly33Val) variant of NCSTN (Nicastrin)
G33V (p.Gly33Val) 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 0.49 / 1. The record also includes population frequency data and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- rs201482602
- ClinGen CA1198601
- ClinVar RCV002756440
- ExAC rs201482602
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.46
- ESM-1b 0.06
- AlphaMissense 0.33
- CADD 24.30
- PolyPhen-2 0.36
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available