M90L (p.Met90Leu) variant of SOX10 (Transcription factor SOX-10)
M90L (p.Met90Leu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M90L (p.Met90Leu) variant details
- p.Met90Leu
- cosmic curated COSV61005
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.55
- CADD 25.20
- PolyPhen-2 0.53
- SIFT 0.03
- Population evidence available
- Structural context available