G78S (p.Gly78Ser) variant of VSIR (Q9H7M9)
G78S (p.Gly78Ser) 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 0.18 / 1. The record also includes population frequency data and structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- rs776266575
- ClinGen CA5545461
- ClinVar RCV004485014
- ExAC rs776266575
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.03
- CADD 12.60
- PolyPhen-2 0.05
- SIFT 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available