A44G (p.Ala44Gly) variant of SOX10 (Transcription factor SOX-10)
A44G (p.Ala44Gly) 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; PCWH syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- rs747377284
- ClinGen CA10228723
- ClinVar RCV000519667
- ClinVar RCV000767097
- Conflicting interpretations
- not specified; not provided; PCWH syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.24
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; PCWH syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available