D112N (p.Asp112Asn) variant of VSIR (Q9H7M9)
D112N (p.Asp112Asn) in VSIR (Q9H7M9) 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 0.20 / 1. The record also includes population frequency data and structural context.
D112N (p.Asp112Asn) variant details
- p.Asp112Asn
- rs777848524
- NCI-TCGA Cosmic COSV9982
- ExAC rs777848524
- gnomAD rs777848524
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available