R32S (p.Arg32Ser) variant of NCSTN (Nicastrin)
R32S (p.Arg32Ser) in NCSTN (Nicastrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- NCI-TCGA Cosmic COSV5410
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.77
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available