P48R (p.Pro48Arg) variant of SOX10 (Transcription factor SOX-10)
P48R (p.Pro48Arg) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- gnomAD 22-37971001-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 4.45
- Population evidence available
- Structural context available
- Literature evidence available