G29V (p.Gly29Val) variant of NCSTN (Nicastrin)
G29V (p.Gly29Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- rs920000413
- ClinGen CA31530932
- ClinVar RCV002594692
- gnomAD rs920000413
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.18
- MetaSVM -0.85
- CADD 27.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available