D10N (p.Asp10Asn) variant of MITF (O75030)
D10N (p.Asp10Asn) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- gnomAD 3-69739625-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.21
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available