A21V (p.Ala21Val) variant of SOX9 (Transcription factor SOX-9)
A21V (p.Ala21Val) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 17-72121453-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.50
- MetaLR 0.93
- MetaSVM 1.07
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available