P9S (p.Pro9Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
P9S (p.Pro9Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs890999119
- ClinGen CA66565436
- ClinVar RCV001881491
- ClinVar RCV004975776
- Conflicting interpretations
- Inborn genetic diseases; not specified; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.23
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Autosomal dominant Alpor)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)