L12S (p.Leu12Ser) variant of ERBB3 (P21860)
L12S (p.Leu12Ser) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD 12-56080335-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.17
- MetaLR 0.28
- MetaSVM -0.79
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available