V40A (p.Val40Ala) variant of CTNNA1 (Catenin alpha-1)
V40A (p.Val40Ala) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD rs1755321271
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.70
- CADD 24.70
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available