Q5R (p.Gln5Arg) variant of SOX10 (Transcription factor SOX-10)
Q5R (p.Gln5Arg) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- Ensembl rs1932481978
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.56
- CADD 22.10
- PolyPhen-2 0.08
- SIFT 0.07
- Population evidence available
- Structural context available