Y52N (p.Tyr52Asn) variant of ERBB4 (Q15303)
Y52N (p.Tyr52Asn) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Y52N (p.Tyr52Asn) variant details
- p.Tyr52Asn
- Ensembl rs2125571137
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available