G60R (p.Gly60Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G60R (p.Gly60Arg) 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.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs867718675
- ClinGen CA334177338
- cosmic curated COSV10811
- ClinVar RCV003691583
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available