N147S (p.Asn147Ser) variant of MSI1 (O43347)
N147S (p.Asn147Ser) 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 0.45 / 1. The record also includes population frequency data and structural context.
N147S (p.Asn147Ser) variant details
- p.Asn147Ser
- rs1197064821
- Ensembl rs1197064821
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available