P67S (p.Pro67Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
P67S (p.Pro67Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- ExAC rs755183371
- TOPMed rs755183371
- gnomAD rs755183371
- Uncertain significance
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.78
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available