Y53C (p.Tyr53Cys) variant of ERBB3 (P21860)
Y53C (p.Tyr53Cys) in ERBB3 (P21860) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- rs752180033
- ExAC rs752180033
- TOPMed rs752180033
- gnomAD rs752180033
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.65
- MetaLR 0.61
- MetaSVM 0.27
- CADD 27.00
- PolyPhen-2 0.70
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available