Y53C (p.Tyr53Cys) variant of ERBB4 (Q15303)
Y53C (p.Tyr53Cys) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- rs756650586
- ClinGen CA2088510
- cosmic curated COSV53552
- ClinVar RCV001095444
- Uncertain significance
- Amyotrophic lateral sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task… (PMID 21914052)