L39V (p.Leu39Val) variant of CTNNA1 (Catenin alpha-1)
L39V (p.Leu39Val) in CTNNA1 (Catenin alpha-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- gnomAD 5-138783186-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available