T12K (p.Thr12Lys) variant of WWOX (Q9NZC7)
T12K (p.Thr12Lys) in WWOX (Q9NZC7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T12K (p.Thr12Lys) variant details
- p.Thr12Lys
- gnomAD 16-78099813-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 27.60
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available