H18N (p.His18Asn) variant of MITF (O75030)
H18N (p.His18Asn) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H18N (p.His18Asn) variant details
- p.His18Asn
- cosmic curated COSV10590
- 1000Genomes rs201296271
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available