R43Q (p.Arg43Gln) variant of SOX10 (Transcription factor SOX-10)
R43Q (p.Arg43Gln) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- cosmic curated COSV61005
- TOPMed rs1932474865
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 0.65
- Population evidence available
- Structural context available