L15I (p.Leu15Ile) variant of ERBB2 (P04626)
L15I (p.Leu15Ile) in ERBB2 (P04626) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- 1000Genomes rs193171026
- ExAC rs193171026
- TOPMed rs193171026
- gnomAD rs193171026
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available