p.Gly37 Gly42del variant of PURA (Q00577)
p.Gly37 Gly42del in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly37 Gly42del variant details
- rs1184201512
- gnomAD 5-140114270-CCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 20.40
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available