V20I (p.Val20Ile) variant of ERBB4 (Q15303)
V20I (p.Val20Ile) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- cosmic curated COSV53580
- ESP rs373308672
- ExAC rs373308672
- TOPMed rs373308672
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.13
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available