K21N (p.Lys21Asn) variant of MSI1 (O43347)
K21N (p.Lys21Asn) 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 0.53 / 1. The record also includes population frequency data and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.45
- CADD 28.60
- PolyPhen-2 0.60
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available