L33V (p.Leu33Val) variant of ERBB3 (P21860)
L33V (p.Leu33Val) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- gnomAD 12-56083765-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.03
- MetaLR 0.32
- MetaSVM -0.65
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available