H58Y (p.His58Tyr) variant of COL4A5 (Collagen alpha-5(IV) chain)
H58Y (p.His58Tyr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H58Y (p.His58Tyr) variant details
- p.His58Tyr
- rs372805446
- ClinGen CA10488377
- cosmic curated COSV60359
- ClinVar RCV003725029
- Conflicting interpretations
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.52
- MetaLR 0.64
- MetaSVM 0.22
- CADD 15.20
- PolyPhen-2 0.36
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked Alport syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)