R38G (p.Arg38Gly) variant of NCSTN (Nicastrin)
R38G (p.Arg38Gly) 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 0.39 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs137960789
- ClinGen CA1198604
- ClinVar RCV001957046
- ESP rs137960789
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available