K56T (p.Lys56Thr) variant of SOX10 (Transcription factor SOX-10)
K56T (p.Lys56Thr) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K56T (p.Lys56Thr) variant details
- p.Lys56Thr
- rs1344502175
- gnomAD 22-37970989-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.099
- CADD 2.59
- Population evidence available
- Structural context available
- Literature evidence available