L7Q (p.Leu7Gln) variant of ERBB3 (P21860)
L7Q (p.Leu7Gln) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- gnomAD 12-56080320-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.26
- MetaLR 0.48
- MetaSVM 0.04
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available