E4N (p.Glu4Asn) variant of MITF (O75030)
E4N (p.Glu4Asn) in MITF (O75030) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E4N (p.Glu4Asn) variant details
- p.Glu4Asn
- gnomAD 3-69739606-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available