T23N (p.Thr23Asn) variant of MITF (O75030)
T23N (p.Thr23Asn) in MITF (O75030) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T23N (p.Thr23Asn) variant details
- p.Thr23Asn
- gnomAD 3-69739665-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available