C61Y (p.Cys61Tyr) variant of ITGB4 (Integrin beta-4)
C61Y (p.Cys61Tyr) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C61Y (p.Cys61Tyr) variant details
- p.Cys61Tyr
- rs80338755
- ClinGen CA341333
- ClinVar RCV000015855
- ClinVar RCV000413122
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Pathogenic (in JEB5B)
- UniProt: Pathogenic (in JEB5B)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus… (PMID 9792864)
- Cited in: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PMID 10873890)