G30R (p.Gly30Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G30R (p.Gly30Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs1559854632
- ClinGen CA350857960
- ClinVar RCV000681943
- Ensembl rs1559854632
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.53
- CADD 25.40
- PolyPhen-2 0.73
- SIFT 0.09
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available