G54V (p.Gly54Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G54V (p.Gly54Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- rs104886043
- ClinGen CA413914096
- ClinVar RCV002033024
- Ensembl rs104886043
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available