T19A (p.Thr19Ala) variant of ERBB4 (Q15303)
T19A (p.Thr19Ala) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- cosmic curated COSV53503
- Ensembl rs1222629052
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.33
- CADD 23.90
- PolyPhen-2 0.58
- SIFT 0.78
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available