L4V (p.Leu4Val) variant of SOX9 (Transcription factor SOX-9)
L4V (p.Leu4Val) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD 17-72121401-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.68
- MetaLR 0.92
- MetaSVM 1.02
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available