A37A (p.Ala37Ala) variant of HADHB (P55084)
A37A (p.Ala37Ala) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A37A (p.Ala37Ala) variant details
- p.Ala37Ala
- rs1574650470
- gnomAD 2-26263381-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0877
- CADD 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available