L16V (p.Leu16Val) variant of ERBB2 (P04626)
L16V (p.Leu16Val) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- gnomAD rs1225599701
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.27
- CADD 21.30
- PolyPhen-2 0.90
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available