L13I (p.Leu13Ile) variant of ERBB2 (P04626)
L13I (p.Leu13Ile) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L13I (p.Leu13Ile) variant details
- p.Leu13Ile
- gnomAD 17-39700275-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available