L49P (p.Leu49Pro) variant of ERBB3 (P21860)
L49P (p.Leu49Pro) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- gnomAD 12-56083814-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.54
- MetaLR 0.65
- MetaSVM 0.38
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available