D12N (p.Asp12Asn) variant of SLC2A4 (P14672)
D12N (p.Asp12Asn) in SLC2A4 (P14672) 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 0.37 / 1. The record also includes population frequency data and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- rs562894482
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.13
- MetaLR 0.27
- MetaSVM -0.66
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available