N88D (p.Asn88Asp) variant of SMARCE1 (Q969G3)
N88D (p.Asn88Asp) 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 0.81 / 1. The record also includes population frequency data and structural context.
N88D (p.Asn88Asp) variant details
- p.Asn88Asp
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52861
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.93
- CADD 27.30
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available