P15R (p.Pro15Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
P15R (p.Pro15Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs1260966222
- ClinGen CA350846071
- ClinVar RCV001307150
- ClinVar RCV002476414
- Uncertain significance
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)