P66S (p.Pro66Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
P66S (p.Pro66Ser) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- rs758822531
- ClinGen CA2145746
- ClinVar RCV003073990
- ClinVar RCV005028153
- Conflicting interpretations
- not provided; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive Alport syndrome; Hematuria, be)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)