D41N (p.Asp41Asn) variant of ERBB3 (P21860)
D41N (p.Asp41Asn) in ERBB3 (P21860) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs374953448
- ClinGen CA6621839
- cosmic curated COSV57249
- ClinVar RCV003147108
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.08
- MetaLR 0.31
- MetaSVM -0.62
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available