N49T (p.Asn49Thr) variant of CTNNA1 (Catenin alpha-1)
N49T (p.Asn49Thr) 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.
N49T (p.Asn49Thr) variant details
- p.Asn49Thr
- gnomAD 5-138783217-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available