L39I (p.Leu39Ile) variant of ERBB4 (Q15303)
L39I (p.Leu39Ile) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L39I (p.Leu39Ile) variant details
- p.Leu39Ile
- gnomAD rs1176455587
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.28
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.25
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available