D64A (p.Asp64Ala) variant of SOX10 (Transcription factor SOX-10)
D64A (p.Asp64Ala) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D64A (p.Asp64Ala) variant details
- p.Asp64Ala
- rs372400283
- ClinGen CA10228719
- ClinVar RCV002006662
- ClinVar RCV004782855
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available