I143M (p.Ile143Met) variant of SMARCE1 (Q969G3)
I143M (p.Ile143Met) in SMARCE1 (Q969G3) 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 0.21 / 1. The record also includes population frequency data and structural context.
I143M (p.Ile143Met) variant details
- p.Ile143Met
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52861
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.10
- CADD 18.50
- PolyPhen-2 0.05
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available