T2S (p.Thr2Ser) variant of CTNNA1 (Catenin alpha-1)
T2S (p.Thr2Ser) in CTNNA1 (Catenin alpha-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 5-138781929-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.07
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available