V92L (p.Val92Leu) variant of SOX10 (Transcription factor SOX-10)
V92L (p.Val92Leu) 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; PCWH syndrome; Hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V92L (p.Val92Leu) variant details
- p.Val92Leu
- rs142113652
- ClinGen CA10228700
- ClinVar RCV000871484
- ClinVar RCV001146313
- Conflicting interpretations
- not specified; PCWH syndrome; Hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.57
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not specified; PCWH syndrome; Hearing impairment)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available