C262Y (p.Cys262Tyr) variant of ERBB4 (Q15303)
C262Y (p.Cys262Tyr) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NK-cell enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
C262Y (p.Cys262Tyr) variant details
- p.Cys262Tyr
- rs1575051224
- ClinGen CA350444510
- cosmic curated COSV53547
- ClinVar RCV000791313
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available