P46T (p.Pro46Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
P46T (p.Pro46Thr) 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; Hematuria, benign familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- rs374836502
- ClinGen CA2145778
- ClinVar RCV003011356
- ClinVar RCV005019552
- Conflicting interpretations
- not provided; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- CADD 21.50
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive Alport syndrome; Hematuria, be)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)