N29T (p.Asn29Thr) variant of ALDH2 (P05091)
N29T (p.Asn29Thr) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N29T (p.Asn29Thr) variant details
- p.Asn29Thr
- gnomAD 12-111767061-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 24.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available