G216V (p.Gly216Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G216V (p.Gly216Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
G216V (p.Gly216Val) variant details
- p.Gly216Val
- rs2069899081
- ClinGen CA350864774
- ClinVar RCV001248776
- Ensembl rs2069899081
- Likely pathogenic
- Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.67
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available