H5N (p.His5Asn) variant of CTNNA1 (Catenin alpha-1)
H5N (p.His5Asn) in CTNNA1 (Catenin alpha-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H5N (p.His5Asn) variant details
- p.His5Asn
- gnomAD 5-138781937-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.06
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available