L15F (p.Leu15Phe) variant of ERBB2 (P04626)
L15F (p.Leu15Phe) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs193171026
- ClinGen CA158544
- cosmic curated COSV54067
- ClinVar RCV000120736
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.38
- CADD 23.60
- PolyPhen-2 0.54
- SIFT 0.08
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available