L49S (p.Leu49Ser) variant of ERBB4 (Q15303)
L49S (p.Leu49Ser) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L49S (p.Leu49Ser) variant details
- p.Leu49Ser
- gnomAD rs1251265863
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.86
- CADD 29.30
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available