G6V (p.Gly6Val) variant of NCSTN (Nicastrin)
G6V (p.Gly6Val) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- TOPMed rs1243549103
- gnomAD rs1243549103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available