K55N (p.Lys55Asn) variant of SOX10 (Transcription factor SOX-10)
K55N (p.Lys55Asn) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- cosmic curated COSV10610
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.22
- CADD 20.60
- PolyPhen-2 0.24
- SIFT 0.30
- Population evidence available
- Structural context available