D64V (p.Asp64Val) variant of SOX10 (Transcription factor SOX-10)
D64V (p.Asp64Val) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D64V (p.Asp64Val) variant details
- p.Asp64Val
- rs372400283
- ClinGen CA10228717
- ClinVar RCV000221276
- ClinVar RCV001509097
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available