P78S (p.Pro78Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
P78S (p.Pro78Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive Alport syndrome; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- rs762682812
- ClinGen CA2145738
- ClinVar RCV001278689
- ClinVar RCV001317669
- Conflicting interpretations
- not provided; Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.24
- CADD 9.04
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive Alport syndrome; Benign famili)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)