M8L (p.Met8Leu) variant of SOX9 (Transcription factor SOX-9)
M8L (p.Met8Leu) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M8L (p.Met8Leu) variant details
- p.Met8Leu
- TOPMed rs1221846522
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.40
- MetaLR 0.58
- MetaSVM -0.11
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available