N175S (p.Asn175Ser) variant of MSI1 (O43347)
N175S (p.Asn175Ser) in MSI1 (O43347) 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 0.61 / 1. The record also includes population frequency data and structural context.
N175S (p.Asn175Ser) variant details
- p.Asn175Ser
- rs1287732568
- NCI-TCGA Cosmic COSV5745
- gnomAD rs1287732568
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.61
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available