M26I (p.Met26Ile) variant of SOX9 (Transcription factor SOX-9)
M26I (p.Met26Ile) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M26I (p.Met26Ile) variant details
- p.Met26Ile
- gnomAD rs1482055922
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.38
- MetaLR 0.45
- MetaSVM -0.19
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available