L6V (p.Leu6Val) variant of ERBB2 (P04626)
L6V (p.Leu6Val) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 17-39700254-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available