Q21H (p.Gln21His) variant of ERBB4 (Q15303)
Q21H (p.Gln21His) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. 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.
Q21H (p.Gln21His) variant details
- p.Gln21His
- 1000Genomes rs2229091
- ESP rs2229091
- ExAC rs2229091
- TOPMed rs2229091
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.25
- CADD 24.50
- PolyPhen-2 0.58
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available