P87del (p.Pro87del) variant of ATP1A1 (P05023)
P87del (p.Pro87del) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P87del (p.Pro87del) variant details
- gnomAD 1-116387360-ACTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 19.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available