P3L (p.Pro3Leu) variant of ERBB4 (Q15303)
P3L (p.Pro3Leu) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ERBB4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- ExAC rs772612441
- gnomAD rs772612441
- Uncertain significance
- ERBB4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.24
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (ERBB4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available