G5V (p.Gly5Val) variant of NCSTN (Nicastrin)
G5V (p.Gly5Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- rs528352370
- ClinGen CA1198537
- ClinVar RCV003725404
- 1000Genomes rs528352370
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available