G65S (p.Gly65Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
G65S (p.Gly65Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant COL4A4-related disorders; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G65S (p.Gly65Ser) variant details
- p.Gly65Ser
- rs776036994
- ClinGen CA350863536
- ClinVar RCV001281287
- ClinVar RCV004538531
- Likely pathogenic
- Autosomal dominant COL4A4-related disorders; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.93
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant COL4A4-related disorders; Autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)