P18L (p.Pro18Leu) variant of ERBB2 (P04626)
P18L (p.Pro18Leu) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- Ensembl rs2145269487
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.27
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available