D29T (p.Asp29Thr) variant of ATP1A1 (P05023)
D29T (p.Asp29Thr) in ATP1A1 (P05023) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D29T (p.Asp29Thr) variant details
- p.Asp29Thr
- rs773133722
- gnomAD 1-116384085-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 29.10
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Literature evidence available