P14A (p.Pro14Ala) variant of SOX10 (Transcription factor SOX-10)
P14A (p.Pro14Ala) 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 provided. The record also includes structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- rs2518053010
- ClinGen CA411502347
- ClinVar RCV003228541
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available