D112E (p.Asp112Glu) variant of VSIR (Q9H7M9)
D112E (p.Asp112Glu) in VSIR (Q9H7M9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D112E (p.Asp112Glu) variant details
- p.Asp112Glu
- rs1346708628
- ClinGen CA377135663
- ClinVar RCV004485015
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.12
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available